Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar degeneration mapped to chromosome 14q32.1. The CAG expansions of the MJD1 gene was identified as the cause of the disease. We have analyzed 90 MJD individuals from 62 independent MJD families and found that the MJD1 repeat length...
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| Veröffentlicht in: | Human molecular genetics 1995-05, Vol.4 (5), p.807-812 |
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| creator | Maruyama, Hirofumi Nakamura, Shigenobu Matsuyama, Zenjiro Sakai, Tetsuo Doyu, Manabu Sobue, Gen Seto, Makiko Tsujihata, Mitsuhiro Oh-i, Takekazu Nishio, Takeshi Sunohara, Nobuhiko Takahashi, Ryosuke Hayashi, Michiyuki Nishino, Ichizo Ohtake, Toshiyuki Oda, Tatsuro Nishimura, Masataka Saida, Takahiko Matsumoto, Hiroyuki Baba, Masayuki Kawaguchi, Yoshiya Kakizuka, Akira Kawakami, Hideshi |
| description | Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar degeneration mapped to chromosome 14q32.1. The CAG expansions of the MJD1 gene was identified as the cause of the disease. We have analyzed 90 MJD individuals from 62 independent MJD families and found that the MJD1 repeat length is inversely correlated with the age of onset (r= −0.87). The MJD chromosomes contained 61–84 repeat units, whereas normal chromosomes displayed 14–34 repeats. In the normal chromosomes, 14 repeat units were the most common and the shortest. In association with the clinical anticipation of the disease, a parent-child analysis showed the unidirectional expansion of CAG repeats and no case of diminution in the affected family. The differences in CAG repeat length between parent and child and between siblings are greater in paternal transmission than in maternal transmission. Detailed analysis revealed that a large degree of expansion was associated with a shorter length of MJD1 gene in paternal transmission. On the other hand, the increments of increase were similar for shorter and longer expansion in maternal transmission. Among the three clinical subtypes, type I of MJD, with dystonia, showed a larger degree of expansion in CAG repeats of the gene and younger ages of onset than the other types. |
| doi_str_mv | 10.1093/hmg/4.5.807 |
| format | Article |
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The CAG expansions of the MJD1 gene was identified as the cause of the disease. We have analyzed 90 MJD individuals from 62 independent MJD families and found that the MJD1 repeat length is inversely correlated with the age of onset (r= −0.87). The MJD chromosomes contained 61–84 repeat units, whereas normal chromosomes displayed 14–34 repeats. In the normal chromosomes, 14 repeat units were the most common and the shortest. In association with the clinical anticipation of the disease, a parent-child analysis showed the unidirectional expansion of CAG repeats and no case of diminution in the affected family. The differences in CAG repeat length between parent and child and between siblings are greater in paternal transmission than in maternal transmission. Detailed analysis revealed that a large degree of expansion was associated with a shorter length of MJD1 gene in paternal transmission. On the other hand, the increments of increase were similar for shorter and longer expansion in maternal transmission. Among the three clinical subtypes, type I of MJD, with dystonia, showed a larger degree of expansion in CAG repeats of the gene and younger ages of onset than the other types.</description><identifier>ISSN: 0964-6906</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/4.5.807</identifier><identifier>PMID: 7633439</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Adult ; age ; Age of Onset ; Aged ; Base Sequence ; Biological and medical sciences ; central nervous system diseases ; chromosome 14 ; Chromosomes, Human, Pair 14 ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA Primers - genetics ; Female ; gene expression ; Humans ; Machado-Joseph disease ; Machado-Joseph Disease - classification ; Machado-Joseph Disease - genetics ; Male ; man ; Medical sciences ; Middle Aged ; Minisatellite Repeats ; MJD1 gene ; Molecular Sequence Data ; Neurology ; Oligodeoxyribonucleotides - genetics ; Polymerase Chain Reaction ; repeated sequence ; Repetitive Sequences, Nucleic Acid</subject><ispartof>Human molecular genetics, 1995-05, Vol.4 (5), p.807-812</ispartof><rights>1995 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c448t-d4884e7920e7f3e1b1589968c0531509c6a7ed0bba75d2d6587faba60cb7dc3a3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,782,786,27933,27934</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3561549$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7633439$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Maruyama, Hirofumi</creatorcontrib><creatorcontrib>Nakamura, Shigenobu</creatorcontrib><creatorcontrib>Matsuyama, Zenjiro</creatorcontrib><creatorcontrib>Sakai, Tetsuo</creatorcontrib><creatorcontrib>Doyu, Manabu</creatorcontrib><creatorcontrib>Sobue, Gen</creatorcontrib><creatorcontrib>Seto, Makiko</creatorcontrib><creatorcontrib>Tsujihata, Mitsuhiro</creatorcontrib><creatorcontrib>Oh-i, Takekazu</creatorcontrib><creatorcontrib>Nishio, Takeshi</creatorcontrib><creatorcontrib>Sunohara, Nobuhiko</creatorcontrib><creatorcontrib>Takahashi, Ryosuke</creatorcontrib><creatorcontrib>Hayashi, Michiyuki</creatorcontrib><creatorcontrib>Nishino, Ichizo</creatorcontrib><creatorcontrib>Ohtake, Toshiyuki</creatorcontrib><creatorcontrib>Oda, Tatsuro</creatorcontrib><creatorcontrib>Nishimura, Masataka</creatorcontrib><creatorcontrib>Saida, Takahiko</creatorcontrib><creatorcontrib>Matsumoto, Hiroyuki</creatorcontrib><creatorcontrib>Baba, Masayuki</creatorcontrib><creatorcontrib>Kawaguchi, Yoshiya</creatorcontrib><creatorcontrib>Kakizuka, Akira</creatorcontrib><creatorcontrib>Kawakami, Hideshi</creatorcontrib><title>Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease</title><title>Human molecular genetics</title><addtitle>Hum Mol Genet</addtitle><description>Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar degeneration mapped to chromosome 14q32.1. The CAG expansions of the MJD1 gene was identified as the cause of the disease. We have analyzed 90 MJD individuals from 62 independent MJD families and found that the MJD1 repeat length is inversely correlated with the age of onset (r= −0.87). The MJD chromosomes contained 61–84 repeat units, whereas normal chromosomes displayed 14–34 repeats. In the normal chromosomes, 14 repeat units were the most common and the shortest. In association with the clinical anticipation of the disease, a parent-child analysis showed the unidirectional expansion of CAG repeats and no case of diminution in the affected family. The differences in CAG repeat length between parent and child and between siblings are greater in paternal transmission than in maternal transmission. Detailed analysis revealed that a large degree of expansion was associated with a shorter length of MJD1 gene in paternal transmission. On the other hand, the increments of increase were similar for shorter and longer expansion in maternal transmission. Among the three clinical subtypes, type I of MJD, with dystonia, showed a larger degree of expansion in CAG repeats of the gene and younger ages of onset than the other types.</description><subject>Adult</subject><subject>age</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>central nervous system diseases</subject><subject>chromosome 14</subject><subject>Chromosomes, Human, Pair 14</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DNA Primers - genetics</subject><subject>Female</subject><subject>gene expression</subject><subject>Humans</subject><subject>Machado-Joseph disease</subject><subject>Machado-Joseph Disease - classification</subject><subject>Machado-Joseph Disease - genetics</subject><subject>Male</subject><subject>man</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Minisatellite Repeats</subject><subject>MJD1 gene</subject><subject>Molecular Sequence Data</subject><subject>Neurology</subject><subject>Oligodeoxyribonucleotides - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>repeated sequence</subject><subject>Repetitive Sequences, Nucleic Acid</subject><issn>0964-6906</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtrGzEUhUVpSZ20q64LsyjdlHEk670MpnUSErJpQ8hG3JHu1Grn4UozkP77yth429WFez4Oh4-QD4wuGbX8ctv_vBRLuTRUvyILJhStV9Tw12RBrRK1slS9Jec5_6KUKcH1GTnTinPB7YI8348d-rmDVLUI05wwV2NbTVus1lebKuGufHMFQ6h8F4fooat6GGKLeYIpjsOevge_hTDWt2PG3bYKMSNkfEfetNBlfH-8F-THt6_f19f13cPmZn11V3shzFQHYYxAbVcUdcuRNUwaa5XxVHImqfUKNAbaNKBlWAUljW6hAUV9o4PnwC_I50PvLo1_5rLL9TF77DoYcJyz01oIzkvb_0CmzEpzbQr45QD6NOacsHW7FHtIfx2jbq_cFeVOOOmK8kJ_PNbOTY_hxB4dl_zTMYdc9LUJBh_zCeNSMSn2WH3AYp7w5RRD-u1UWSXd9dOzU-ZWPG64dYz_A7c5l-w</recordid><startdate>19950501</startdate><enddate>19950501</enddate><creator>Maruyama, Hirofumi</creator><creator>Nakamura, Shigenobu</creator><creator>Matsuyama, Zenjiro</creator><creator>Sakai, Tetsuo</creator><creator>Doyu, Manabu</creator><creator>Sobue, Gen</creator><creator>Seto, Makiko</creator><creator>Tsujihata, Mitsuhiro</creator><creator>Oh-i, Takekazu</creator><creator>Nishio, Takeshi</creator><creator>Sunohara, Nobuhiko</creator><creator>Takahashi, Ryosuke</creator><creator>Hayashi, Michiyuki</creator><creator>Nishino, Ichizo</creator><creator>Ohtake, Toshiyuki</creator><creator>Oda, Tatsuro</creator><creator>Nishimura, Masataka</creator><creator>Saida, Takahiko</creator><creator>Matsumoto, Hiroyuki</creator><creator>Baba, Masayuki</creator><creator>Kawaguchi, Yoshiya</creator><creator>Kakizuka, Akira</creator><creator>Kawakami, Hideshi</creator><general>Oxford University Press</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T3</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>19950501</creationdate><title>Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease</title><author>Maruyama, Hirofumi ; Nakamura, Shigenobu ; Matsuyama, Zenjiro ; Sakai, Tetsuo ; Doyu, Manabu ; Sobue, Gen ; Seto, Makiko ; Tsujihata, Mitsuhiro ; Oh-i, Takekazu ; Nishio, Takeshi ; Sunohara, Nobuhiko ; Takahashi, Ryosuke ; Hayashi, Michiyuki ; Nishino, Ichizo ; Ohtake, Toshiyuki ; Oda, Tatsuro ; Nishimura, Masataka ; Saida, Takahiko ; Matsumoto, Hiroyuki ; Baba, Masayuki ; Kawaguchi, Yoshiya ; Kakizuka, Akira ; Kawakami, Hideshi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c448t-d4884e7920e7f3e1b1589968c0531509c6a7ed0bba75d2d6587faba60cb7dc3a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Adult</topic><topic>age</topic><topic>Age of Onset</topic><topic>Aged</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>central nervous system diseases</topic><topic>chromosome 14</topic><topic>Chromosomes, Human, Pair 14</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>DNA Primers - genetics</topic><topic>Female</topic><topic>gene expression</topic><topic>Humans</topic><topic>Machado-Joseph disease</topic><topic>Machado-Joseph Disease - classification</topic><topic>Machado-Joseph Disease - genetics</topic><topic>Male</topic><topic>man</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Minisatellite Repeats</topic><topic>MJD1 gene</topic><topic>Molecular Sequence Data</topic><topic>Neurology</topic><topic>Oligodeoxyribonucleotides - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>repeated sequence</topic><topic>Repetitive Sequences, Nucleic Acid</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Maruyama, Hirofumi</creatorcontrib><creatorcontrib>Nakamura, Shigenobu</creatorcontrib><creatorcontrib>Matsuyama, Zenjiro</creatorcontrib><creatorcontrib>Sakai, Tetsuo</creatorcontrib><creatorcontrib>Doyu, Manabu</creatorcontrib><creatorcontrib>Sobue, Gen</creatorcontrib><creatorcontrib>Seto, Makiko</creatorcontrib><creatorcontrib>Tsujihata, Mitsuhiro</creatorcontrib><creatorcontrib>Oh-i, Takekazu</creatorcontrib><creatorcontrib>Nishio, Takeshi</creatorcontrib><creatorcontrib>Sunohara, Nobuhiko</creatorcontrib><creatorcontrib>Takahashi, Ryosuke</creatorcontrib><creatorcontrib>Hayashi, Michiyuki</creatorcontrib><creatorcontrib>Nishino, Ichizo</creatorcontrib><creatorcontrib>Ohtake, Toshiyuki</creatorcontrib><creatorcontrib>Oda, Tatsuro</creatorcontrib><creatorcontrib>Nishimura, Masataka</creatorcontrib><creatorcontrib>Saida, Takahiko</creatorcontrib><creatorcontrib>Matsumoto, Hiroyuki</creatorcontrib><creatorcontrib>Baba, Masayuki</creatorcontrib><creatorcontrib>Kawaguchi, Yoshiya</creatorcontrib><creatorcontrib>Kakizuka, Akira</creatorcontrib><creatorcontrib>Kawakami, Hideshi</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Human Genome Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Maruyama, Hirofumi</au><au>Nakamura, Shigenobu</au><au>Matsuyama, Zenjiro</au><au>Sakai, Tetsuo</au><au>Doyu, Manabu</au><au>Sobue, Gen</au><au>Seto, Makiko</au><au>Tsujihata, Mitsuhiro</au><au>Oh-i, Takekazu</au><au>Nishio, Takeshi</au><au>Sunohara, Nobuhiko</au><au>Takahashi, Ryosuke</au><au>Hayashi, Michiyuki</au><au>Nishino, Ichizo</au><au>Ohtake, Toshiyuki</au><au>Oda, Tatsuro</au><au>Nishimura, Masataka</au><au>Saida, Takahiko</au><au>Matsumoto, Hiroyuki</au><au>Baba, Masayuki</au><au>Kawaguchi, Yoshiya</au><au>Kakizuka, Akira</au><au>Kawakami, Hideshi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Hum Mol Genet</addtitle><date>1995-05-01</date><risdate>1995</risdate><volume>4</volume><issue>5</issue><spage>807</spage><epage>812</epage><pages>807-812</pages><issn>0964-6906</issn><eissn>1460-2083</eissn><abstract>Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar degeneration mapped to chromosome 14q32.1. The CAG expansions of the MJD1 gene was identified as the cause of the disease. We have analyzed 90 MJD individuals from 62 independent MJD families and found that the MJD1 repeat length is inversely correlated with the age of onset (r= −0.87). The MJD chromosomes contained 61–84 repeat units, whereas normal chromosomes displayed 14–34 repeats. In the normal chromosomes, 14 repeat units were the most common and the shortest. In association with the clinical anticipation of the disease, a parent-child analysis showed the unidirectional expansion of CAG repeats and no case of diminution in the affected family. The differences in CAG repeat length between parent and child and between siblings are greater in paternal transmission than in maternal transmission. Detailed analysis revealed that a large degree of expansion was associated with a shorter length of MJD1 gene in paternal transmission. On the other hand, the increments of increase were similar for shorter and longer expansion in maternal transmission. Among the three clinical subtypes, type I of MJD, with dystonia, showed a larger degree of expansion in CAG repeats of the gene and younger ages of onset than the other types.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>7633439</pmid><doi>10.1093/hmg/4.5.807</doi><tpages>6</tpages></addata></record> |
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| subjects | Adult age Age of Onset Aged Base Sequence Biological and medical sciences central nervous system diseases chromosome 14 Chromosomes, Human, Pair 14 Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Primers - genetics Female gene expression Humans Machado-Joseph disease Machado-Joseph Disease - classification Machado-Joseph Disease - genetics Male man Medical sciences Middle Aged Minisatellite Repeats MJD1 gene Molecular Sequence Data Neurology Oligodeoxyribonucleotides - genetics Polymerase Chain Reaction repeated sequence Repetitive Sequences, Nucleic Acid |
| title | Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease |
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