Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene
DNA sequencing of enzymatically-amplified exons of the low-density lipoprotein receptor gene from several individuals revealed a polymorphism in exon 10 of the gene. The codon for arginine 450 was converted from AGG to AGA in some alleles.
Gespeichert in:
| Veröffentlicht in: | Human genetics 1992-05, Vol.89 (3), p.362-362 |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 362 |
|---|---|
| container_issue | 3 |
| container_start_page | 362 |
| container_title | Human genetics |
| container_volume | 89 |
| creator | WARNICH, L KOTZE, M. J LANGENHOVEN, E RETIEF, A. E |
| description | DNA sequencing of enzymatically-amplified exons of the low-density lipoprotein receptor gene from several individuals revealed a polymorphism in exon 10 of the gene. The codon for arginine 450 was converted from AGG to AGA in some alleles. |
| doi_str_mv | 10.1007/BF00220563 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_72981579</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>72981579</sourcerecordid><originalsourceid>FETCH-LOGICAL-c342t-333ef0cf70c800565df84dcc0bdb8aa06f63a66273a65331740cbf2a3a88b0f33</originalsourceid><addsrcrecordid>eNqF0EtLxDAQB_Agyro-Lt6FHMSDUJ082rRHXZ-w4EVvQknTiVtpm5pk0f32dtlFj15mDvNjmPkTcsLgkgGoq5t7AM4hzcQOmTIpeMI4iF0yBSEhyRRT--QghA8AlhY8nZAJy4BJXkzJ2y1GNLFxPXWWamo9fi6xj3Rw7apzflg0oaNNT_F7JAzWKi6Qtu4rqbEPTVzRthnc4F3EkXk0OETn6Tv2eET2rG4DHm_7IXm9v3uZPSbz54en2fU8MULymAgh0IKxCkwO4xdpbXNZGwNVXeVaQ2YzobOMq7GmQjAlwVSWa6HzvAIrxCE53-wdrxivD7HsmmCwbXWPbhlKxYucpar4F7KMy1yxNbzYQONdCB5tOfim035VMijXmZd_mY_4dLt1WXVY_9FNyOP8bDvXwejWet2bJvwyKdJUFkz8ABx0iAE</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>16248719</pqid></control><display><type>article</type><title>Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene</title><source>MEDLINE</source><source>Springer Online Journals Complete</source><creator>WARNICH, L ; KOTZE, M. J ; LANGENHOVEN, E ; RETIEF, A. E</creator><creatorcontrib>WARNICH, L ; KOTZE, M. J ; LANGENHOVEN, E ; RETIEF, A. E</creatorcontrib><description>DNA sequencing of enzymatically-amplified exons of the low-density lipoprotein receptor gene from several individuals revealed a polymorphism in exon 10 of the gene. The codon for arginine 450 was converted from AGG to AGA in some alleles.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF00220563</identifier><identifier>PMID: 1601429</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Alleles ; Arginine - genetics ; Base Sequence ; Biological and medical sciences ; exons ; Exons - genetics ; Fundamental and applied biological sciences. Psychology ; genes ; Humans ; lipoprotein (low density) ; man ; Molecular and cellular biology ; Molecular Sequence Data ; Mutation - genetics ; Oligodeoxyribonucleotides - genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic - genetics ; receptors ; Receptors, LDL - genetics ; restriction fragment length polymorphism</subject><ispartof>Human genetics, 1992-05, Vol.89 (3), p.362-362</ispartof><rights>1993 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c342t-333ef0cf70c800565df84dcc0bdb8aa06f63a66273a65331740cbf2a3a88b0f33</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4355491$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1601429$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>WARNICH, L</creatorcontrib><creatorcontrib>KOTZE, M. J</creatorcontrib><creatorcontrib>LANGENHOVEN, E</creatorcontrib><creatorcontrib>RETIEF, A. E</creatorcontrib><title>Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>DNA sequencing of enzymatically-amplified exons of the low-density lipoprotein receptor gene from several individuals revealed a polymorphism in exon 10 of the gene. The codon for arginine 450 was converted from AGG to AGA in some alleles.</description><subject>Alleles</subject><subject>Arginine - genetics</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>exons</subject><subject>Exons - genetics</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>genes</subject><subject>Humans</subject><subject>lipoprotein (low density)</subject><subject>man</subject><subject>Molecular and cellular biology</subject><subject>Molecular Sequence Data</subject><subject>Mutation - genetics</subject><subject>Oligodeoxyribonucleotides - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic - genetics</subject><subject>receptors</subject><subject>Receptors, LDL - genetics</subject><subject>restriction fragment length polymorphism</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0EtLxDAQB_Agyro-Lt6FHMSDUJ082rRHXZ-w4EVvQknTiVtpm5pk0f32dtlFj15mDvNjmPkTcsLgkgGoq5t7AM4hzcQOmTIpeMI4iF0yBSEhyRRT--QghA8AlhY8nZAJy4BJXkzJ2y1GNLFxPXWWamo9fi6xj3Rw7apzflg0oaNNT_F7JAzWKi6Qtu4rqbEPTVzRthnc4F3EkXk0OETn6Tv2eET2rG4DHm_7IXm9v3uZPSbz54en2fU8MULymAgh0IKxCkwO4xdpbXNZGwNVXeVaQ2YzobOMq7GmQjAlwVSWa6HzvAIrxCE53-wdrxivD7HsmmCwbXWPbhlKxYucpar4F7KMy1yxNbzYQONdCB5tOfim035VMijXmZd_mY_4dLt1WXVY_9FNyOP8bDvXwejWet2bJvwyKdJUFkz8ABx0iAE</recordid><startdate>19920501</startdate><enddate>19920501</enddate><creator>WARNICH, L</creator><creator>KOTZE, M. J</creator><creator>LANGENHOVEN, E</creator><creator>RETIEF, A. E</creator><general>Springer</general><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19920501</creationdate><title>Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene</title><author>WARNICH, L ; KOTZE, M. J ; LANGENHOVEN, E ; RETIEF, A. E</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c342t-333ef0cf70c800565df84dcc0bdb8aa06f63a66273a65331740cbf2a3a88b0f33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Alleles</topic><topic>Arginine - genetics</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>exons</topic><topic>Exons - genetics</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>genes</topic><topic>Humans</topic><topic>lipoprotein (low density)</topic><topic>man</topic><topic>Molecular and cellular biology</topic><topic>Molecular Sequence Data</topic><topic>Mutation - genetics</topic><topic>Oligodeoxyribonucleotides - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic - genetics</topic><topic>receptors</topic><topic>Receptors, LDL - genetics</topic><topic>restriction fragment length polymorphism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>WARNICH, L</creatorcontrib><creatorcontrib>KOTZE, M. J</creatorcontrib><creatorcontrib>LANGENHOVEN, E</creatorcontrib><creatorcontrib>RETIEF, A. E</creatorcontrib><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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>WARNICH, L</au><au>KOTZE, M. J</au><au>LANGENHOVEN, E</au><au>RETIEF, A. E</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1992-05-01</date><risdate>1992</risdate><volume>89</volume><issue>3</issue><spage>362</spage><epage>362</epage><pages>362-362</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>DNA sequencing of enzymatically-amplified exons of the low-density lipoprotein receptor gene from several individuals revealed a polymorphism in exon 10 of the gene. The codon for arginine 450 was converted from AGG to AGA in some alleles.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>1601429</pmid><doi>10.1007/BF00220563</doi><tpages>1</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1992-05, Vol.89 (3), p.362-362 |
| issn | 0340-6717 1432-1203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_72981579 |
| source | MEDLINE; Springer Online Journals Complete |
| subjects | Alleles Arginine - genetics Base Sequence Biological and medical sciences exons Exons - genetics Fundamental and applied biological sciences. Psychology genes Humans lipoprotein (low density) man Molecular and cellular biology Molecular Sequence Data Mutation - genetics Oligodeoxyribonucleotides - genetics Polymerase Chain Reaction Polymorphism, Genetic - genetics receptors Receptors, LDL - genetics restriction fragment length polymorphism |
| title | Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-29T18%3A52%3A37IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Detection%20of%20a%20frequent%20polymorphism%20in%20exon%2010%20of%20the%20low-density%20lipoprotein%20receptor%20gene&rft.jtitle=Human%20genetics&rft.au=WARNICH,%20L&rft.date=1992-05-01&rft.volume=89&rft.issue=3&rft.spage=362&rft.epage=362&rft.pages=362-362&rft.issn=0340-6717&rft.eissn=1432-1203&rft.coden=HUGEDQ&rft_id=info:doi/10.1007/BF00220563&rft_dat=%3Cproquest_cross%3E72981579%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=16248719&rft_id=info:pmid/1601429&rfr_iscdi=true |