|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
1985-5-3
|
|
pubmed:abstractText |
Wilson disease (WD) is an autosomal recessively inherited disorder of copper metabolism for which the basic defect is still unknown. Twenty-seven autosomal markers were investigated for linkage in a large inbred kindred with affected individuals in two generations. Also, serum copper and ceruloplasmin were measured on all available members. Close linkage (theta = 0.06) with a logarithm of odds (lod) score of 3.21 was found between the gene for WD and the esterase D locus. Efficient detection of linkage was made possible by the use of a multisibship inbred pedigree. The discovery of a polymorphic marker genetically linked to the WD locus has profound implications both for investigation of the primary gene defect and for clinical services.
|
|
pubmed:grant |
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-1024640,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-1137344,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-1150306,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-1203513,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-4199472,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-5082916,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-6319270,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-6320640,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-6690231,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-6716423,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-6753725,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-6787337,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-6823558,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-7367859,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-7375916,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-838566,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3856863-891013
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Mar
|
|
pubmed:issn |
0027-8424
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
82
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1819-21
|
|
pubmed:dateRevised |
2010-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:3856863-Carboxylesterase,
pubmed-meshheading:3856863-Carboxylic Ester Hydrolases,
pubmed-meshheading:3856863-Chromosome Mapping,
pubmed-meshheading:3856863-Chromosomes, Human, 13-15,
pubmed-meshheading:3856863-Consanguinity,
pubmed-meshheading:3856863-Female,
pubmed-meshheading:3856863-Genetic Linkage,
pubmed-meshheading:3856863-Hepatolenticular Degeneration,
pubmed-meshheading:3856863-Humans,
pubmed-meshheading:3856863-Male,
pubmed-meshheading:3856863-Pedigree
|
|
pubmed:year |
1985
|
|
pubmed:articleTitle |
Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.
|
|
pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|
