Gene mapping of mineral metabolic disorders
Summary Recent advances in the techniques of molecular biology and cytogenetics have enabled the localization of several mutant genes which result in disorders of phosphate, calcium, magnesium and water homeostasis. Thus, the genes causing X‐linked hypophosphataemic rickets, Lowe's syndrome, Di...
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Veröffentlicht in: | Journal of inherited metabolic disease 1989-03, Vol.12 (1), p.231-246 |
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container_title | Journal of inherited metabolic disease |
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creator | Thakker, R. V. Davies, K. E. O'Riordan, J. L. H. |
description | Summary
Recent advances in the techniques of molecular biology and cytogenetics have enabled the localization of several mutant genes which result in disorders of phosphate, calcium, magnesium and water homeostasis. Thus, the genes causing X‐linked hypophosphataemic rickets, Lowe's syndrome, Di George syndrome, X‐linked recessive hypoparathyroidism, multiple endocrine neoplasia Type I, primary hypomagnesaemia and X‐linked nephrogenic diabetes insipidus have been mapped. The molecular and genetic studies which localized these disease genes are described and the implications of this gene mapping in genetic counselling and in further elucidation of the mineral metabolic defects are discussed. |
doi_str_mv | 10.1007/BF01799298 |
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Recent advances in the techniques of molecular biology and cytogenetics have enabled the localization of several mutant genes which result in disorders of phosphate, calcium, magnesium and water homeostasis. Thus, the genes causing X‐linked hypophosphataemic rickets, Lowe's syndrome, Di George syndrome, X‐linked recessive hypoparathyroidism, multiple endocrine neoplasia Type I, primary hypomagnesaemia and X‐linked nephrogenic diabetes insipidus have been mapped. The molecular and genetic studies which localized these disease genes are described and the implications of this gene mapping in genetic counselling and in further elucidation of the mineral metabolic defects are discussed.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/BF01799298</identifier><identifier>PMID: 2681997</identifier><identifier>CODEN: JIMDDP</identifier><language>eng</language><publisher>Dordrecht: Kluwer Academic Publishers</publisher><subject>Biological and medical sciences ; Chromosome Mapping ; Genetic Linkage ; Humans ; Medical sciences ; Metabolic diseases ; Metabolism, Inborn Errors - genetics ; Metals (hemochromatosis...) ; Minerals - metabolism ; Other metabolic disorders ; X Chromosome - ultrastructure</subject><ispartof>Journal of inherited metabolic disease, 1989-03, Vol.12 (1), p.231-246</ispartof><rights>1989 SSIEM</rights><rights>1991 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3531-76f4b5473b4f8ae19fba3a0aee3cee7c52c88b6e4ffb15c25635e9f4d75127dc3</citedby><cites>FETCH-LOGICAL-c3531-76f4b5473b4f8ae19fba3a0aee3cee7c52c88b6e4ffb15c25635e9f4d75127dc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19379151$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2681997$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Thakker, R. V.</creatorcontrib><creatorcontrib>Davies, K. E.</creatorcontrib><creatorcontrib>O'Riordan, J. L. H.</creatorcontrib><title>Gene mapping of mineral metabolic disorders</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>Summary
Recent advances in the techniques of molecular biology and cytogenetics have enabled the localization of several mutant genes which result in disorders of phosphate, calcium, magnesium and water homeostasis. Thus, the genes causing X‐linked hypophosphataemic rickets, Lowe's syndrome, Di George syndrome, X‐linked recessive hypoparathyroidism, multiple endocrine neoplasia Type I, primary hypomagnesaemia and X‐linked nephrogenic diabetes insipidus have been mapped. The molecular and genetic studies which localized these disease genes are described and the implications of this gene mapping in genetic counselling and in further elucidation of the mineral metabolic defects are discussed.</description><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Genetic Linkage</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Metabolism, Inborn Errors - genetics</subject><subject>Metals (hemochromatosis...)</subject><subject>Minerals - metabolism</subject><subject>Other metabolic disorders</subject><subject>X Chromosome - ultrastructure</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1989</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kD1PwzAURS0EKqWwsCNlgQEU8ItjOx5LoaWoiAXmyHGekVG-sFuh_nuCGtGN6Q336Fy9S8g50FugVN7dzylIpRKVHZAxcMniRAh-SMYUUogzxfkxOQnhk1KqMs5HZJSIDJSSY3KzwAajWnedaz6i1ka1a9DrKqpxrYu2ciYqXWh9iT6ckiOrq4Bnw52Q9_nj2-wpXr0ulrPpKjaMM4ilsGnBU8mK1GYaQdlCM001IjOI0vDEZFkhMLW2AG4SLhhHZdNSckhkadiEXO28nW-_NhjWee2CwarSDbabkMv-U0GZ6MHrHWh8G4JHm3fe1dpvc6D57zL5fpkevhism6LG8g8dpujzyyHXwejKet0YF_ZGxaQCDj1Hd9y3q3D7T2P-vHx5oAkD9gMkF3gW</recordid><startdate>198903</startdate><enddate>198903</enddate><creator>Thakker, R. V.</creator><creator>Davies, K. E.</creator><creator>O'Riordan, J. L. H.</creator><general>Kluwer Academic Publishers</general><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>7X8</scope></search><sort><creationdate>198903</creationdate><title>Gene mapping of mineral metabolic disorders</title><author>Thakker, R. V. ; Davies, K. E. ; O'Riordan, J. L. H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3531-76f4b5473b4f8ae19fba3a0aee3cee7c52c88b6e4ffb15c25635e9f4d75127dc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1989</creationdate><topic>Biological and medical sciences</topic><topic>Chromosome Mapping</topic><topic>Genetic Linkage</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Metabolism, Inborn Errors - genetics</topic><topic>Metals (hemochromatosis...)</topic><topic>Minerals - metabolism</topic><topic>Other metabolic disorders</topic><topic>X Chromosome - ultrastructure</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Thakker, R. V.</creatorcontrib><creatorcontrib>Davies, K. E.</creatorcontrib><creatorcontrib>O'Riordan, J. L. H.</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>MEDLINE - Academic</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Thakker, R. V.</au><au>Davies, K. E.</au><au>O'Riordan, J. L. H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Gene mapping of mineral metabolic disorders</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>1989-03</date><risdate>1989</risdate><volume>12</volume><issue>1</issue><spage>231</spage><epage>246</epage><pages>231-246</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>Summary
Recent advances in the techniques of molecular biology and cytogenetics have enabled the localization of several mutant genes which result in disorders of phosphate, calcium, magnesium and water homeostasis. Thus, the genes causing X‐linked hypophosphataemic rickets, Lowe's syndrome, Di George syndrome, X‐linked recessive hypoparathyroidism, multiple endocrine neoplasia Type I, primary hypomagnesaemia and X‐linked nephrogenic diabetes insipidus have been mapped. The molecular and genetic studies which localized these disease genes are described and the implications of this gene mapping in genetic counselling and in further elucidation of the mineral metabolic defects are discussed.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>2681997</pmid><doi>10.1007/BF01799298</doi><tpages>16</tpages></addata></record> |
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subjects | Biological and medical sciences Chromosome Mapping Genetic Linkage Humans Medical sciences Metabolic diseases Metabolism, Inborn Errors - genetics Metals (hemochromatosis...) Minerals - metabolism Other metabolic disorders X Chromosome - ultrastructure |
title | Gene mapping of mineral metabolic disorders |
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