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Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy
Genetic linkage studies were conducted in four multigenerational families with X-linked Charcot-Marie-Tooth disease (CMTX), using 12 highly polymorphic short-tandem-repeat markers for the pericentromeric region of the X chromosome. Pairwise linkage analysis with individual markers confirmed tight li...
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| Published in: | American journal of human genetics 1994-02, Vol.54 (2), p.229-235 |
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| Language: | English |
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| container_end_page | 235 |
| container_issue | 2 |
| container_start_page | 229 |
| container_title | American journal of human genetics |
| container_volume | 54 |
| creator | FAIN, P. R BARKER, D. F CHANCE, P. F |
| description | Genetic linkage studies were conducted in four multigenerational families with X-linked Charcot-Marie-Tooth disease (CMTX), using 12 highly polymorphic short-tandem-repeat markers for the pericentromeric region of the X chromosome. Pairwise linkage analysis with individual markers confirmed tight linkage of CMTX to the pericentromeric region in each family. Multipoint analyses strongly support the order DXS337-CMTX-DXS441-(DXS56,PGK1). |
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Multipoint analyses strongly support the order DXS337-CMTX-DXS441-(DXS56,PGK1).</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 8304339</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: University of Chicago Press</publisher><subject>Adult ; BASIC BIOLOGICAL SCIENCES ; Biological and medical sciences ; Charcot-Marie-Tooth disease ; Charcot-Marie-Tooth Disease - genetics ; Chromosome Mapping ; CHROMOSOMES ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DISEASES ; Female ; Genetic Linkage ; GENETIC MAPPING ; Genetic Markers ; Haplotypes ; HETEROCHROMOSOMES ; HUMAN CHROMOSOMES ; HUMAN X CHROMOSOME ; Humans ; linkage analysis ; Male ; man ; MAPPING ; Medical sciences ; NERVOUS SYSTEM DISEASES ; Neurology ; Pedigree ; Recombination, Genetic ; X Chromosome ; X CHROMOSOME 550400 -- Genetics</subject><ispartof>American journal of human genetics, 1994-02, Vol.54 (2), p.229-235</ispartof><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918155/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918155/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3925804$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8304339$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/6975546$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>FAIN, P. R</creatorcontrib><creatorcontrib>BARKER, D. F</creatorcontrib><creatorcontrib>CHANCE, P. F</creatorcontrib><title>Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Genetic linkage studies were conducted in four multigenerational families with X-linked Charcot-Marie-Tooth disease (CMTX), using 12 highly polymorphic short-tandem-repeat markers for the pericentromeric region of the X chromosome. Pairwise linkage analysis with individual markers confirmed tight linkage of CMTX to the pericentromeric region in each family. Multipoint analyses strongly support the order DXS337-CMTX-DXS441-(DXS56,PGK1).</description><subject>Adult</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>Biological and medical sciences</subject><subject>Charcot-Marie-Tooth disease</subject><subject>Charcot-Marie-Tooth Disease - genetics</subject><subject>Chromosome Mapping</subject><subject>CHROMOSOMES</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DISEASES</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>GENETIC MAPPING</subject><subject>Genetic Markers</subject><subject>Haplotypes</subject><subject>HETEROCHROMOSOMES</subject><subject>HUMAN CHROMOSOMES</subject><subject>HUMAN X CHROMOSOME</subject><subject>Humans</subject><subject>linkage analysis</subject><subject>Male</subject><subject>man</subject><subject>MAPPING</subject><subject>Medical sciences</subject><subject>NERVOUS SYSTEM DISEASES</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Recombination, Genetic</subject><subject>X Chromosome</subject><subject>X CHROMOSOME 550400 -- Genetics</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><recordid>eNqFkV1LwzAUhosoc05_glBEvAskzfeNoMMvmAgywbuQZuka7ZLapML-vYWVoVdeHc55Ht5z4BxkU0QxB4xBephNIYQFkIXkx9lJjB8QIiQgnmQTgSHBWE6z21dbOW9X-dp6m5zJN7ptnV_nocrfQeP858Dmte5MSOBZd86CZQipzr3tu9DqVG9Ps6NKN9GejXWWvd3fLeePYPHy8DS_WYCAiUgAlxXSJeaGEgqJKbCQRGjBjCgMKWglyTBFBg9dxXUp-aokhNuqtBAXlAo8y653uW1fbuzKWJ863ai2cxvdbVXQTv0l3tVqHb4VkkggSoeAi11AiMmpaFyypjbBe2uSYpJTStggXY1buvDV25jUxkVjm0Z7G_qoOMOEU47-FRHjnEEpB_H89937g8cfDPxy5Doa3VSd9sbFvYZlQcVg_gCsYo_6</recordid><startdate>19940201</startdate><enddate>19940201</enddate><creator>FAIN, P. 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F</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-o348t-3bf1ab37c54504c238948a86c82c425f9404c1c32c4f7ab97db447efbe0325583</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Adult</topic><topic>BASIC BIOLOGICAL SCIENCES</topic><topic>Biological and medical sciences</topic><topic>Charcot-Marie-Tooth disease</topic><topic>Charcot-Marie-Tooth Disease - genetics</topic><topic>Chromosome Mapping</topic><topic>CHROMOSOMES</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>DISEASES</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>GENETIC MAPPING</topic><topic>Genetic Markers</topic><topic>Haplotypes</topic><topic>HETEROCHROMOSOMES</topic><topic>HUMAN CHROMOSOMES</topic><topic>HUMAN X CHROMOSOME</topic><topic>Humans</topic><topic>linkage analysis</topic><topic>Male</topic><topic>man</topic><topic>MAPPING</topic><topic>Medical sciences</topic><topic>NERVOUS SYSTEM DISEASES</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>Recombination, Genetic</topic><topic>X Chromosome</topic><topic>X CHROMOSOME 550400 -- Genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>FAIN, P. R</creatorcontrib><creatorcontrib>BARKER, D. F</creatorcontrib><creatorcontrib>CHANCE, P. 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F</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1994-02-01</date><risdate>1994</risdate><volume>54</volume><issue>2</issue><spage>229</spage><epage>235</epage><pages>229-235</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Genetic linkage studies were conducted in four multigenerational families with X-linked Charcot-Marie-Tooth disease (CMTX), using 12 highly polymorphic short-tandem-repeat markers for the pericentromeric region of the X chromosome. Pairwise linkage analysis with individual markers confirmed tight linkage of CMTX to the pericentromeric region in each family. Multipoint analyses strongly support the order DXS337-CMTX-DXS441-(DXS56,PGK1).</abstract><cop>Chicago, IL</cop><pub>University of Chicago Press</pub><pmid>8304339</pmid><tpages>7</tpages></addata></record> |
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| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 1994-02, Vol.54 (2), p.229-235 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1918155 |
| source | Open Access: PubMed Central |
| subjects | Adult BASIC BIOLOGICAL SCIENCES Biological and medical sciences Charcot-Marie-Tooth disease Charcot-Marie-Tooth Disease - genetics Chromosome Mapping CHROMOSOMES Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DISEASES Female Genetic Linkage GENETIC MAPPING Genetic Markers Haplotypes HETEROCHROMOSOMES HUMAN CHROMOSOMES HUMAN X CHROMOSOME Humans linkage analysis Male man MAPPING Medical sciences NERVOUS SYSTEM DISEASES Neurology Pedigree Recombination, Genetic X Chromosome X CHROMOSOME 550400 -- Genetics |
| title | Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy |
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