Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1995-2-13
pubmed:abstractText
Nail-patella syndrome (NPS) is an autosomal dominant disorder characterized by dysplasia of nails and patella, decreased mobility of the elbow, iliac horns, and, in some cases, nephropathy. The disorder has been mapped to the long arm of chromosome 9, but the precise localization and identity of the NPS gene are unknown. Linkage analysis in three NPS families, using highly informative dinucleotide repeat polymorphisms on 9q33-q34, confirmed linkage of NPS to this chromosome. Recombinations were detected, by two-point linkage analysis, between NPS and the centromeric markers D9S60 and the gelsolin gene and the telomeric markers D9S64 and D9S66, in one of the families. Haplotype analysis suggested an additional recombination between NPS and the argininosuccinate synthetase (ASS) gene. These results localize the NPS gene to an interval on 9q34.1, distal to D9S60 and proximal to ASS, comprising a genetic distance of approximately 9 cM. This represents a significant refinement in the localization of the NPS gene.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-13314404, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-1339384, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-13693880, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-13949059, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-1427773, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-1427899, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-14304642, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-14388536, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-1572660, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-1639414, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-2017387, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-2017388, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-2259653, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-3859205, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-4422075, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-5092479, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-5365763, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-5970338, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-8250044, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-8403448, http://linkedlifedata.com/resource/pubmed/commentcorrection/7825584-8449490
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
56
pubmed:geneSymbol
COL5A1, NPS
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
243-7
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Linkage analysis of the nail-patella syndrome.
pubmed:affiliation
Department of Medicine, Montreal General Hospital, Quebec, Canada.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't