Source:http://linkedlifedata.com/resource/pubmed/id/10844547
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
2000-7-17
|
| pubmed:abstractText |
Disseminated superficial actinic porokeratosis is an autosomal dominant cutaneous disorder characterized by many uniformly small, minimal, annular, anhidrotic, and keratotic lesions. The genetic basis for this disease is unknown. Using a genomewide search in a large Chinese family, we identified a locus at chromosome 12q23.2-24. 1 responsible for disseminated superficial actinic porokeratosis. The fine mapping study indicates that the disseminated superficial actinic porokeratosis gene is located within a 9.6 cM region between markers D12S1727 and D12S1605, with a maximum two-point LOD score of 20.53 (theta = 0.00) at D12S78. This is the first locus identified for a genetic disease where the major phenotype is porokeratosis. The study provides a map location for isolation of a gene causing disseminated superficial actinic porokeratosis.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0022-202X
|
| pubmed:author |
pubmed-author:ChenS XSX,
pubmed-author:DengH XHX,
pubmed-author:DengHH,
pubmed-author:GuY ZYZ,
pubmed-author:KIMS HSH,
pubmed-author:LUY LYL,
pubmed-author:LiaoX DXD,
pubmed-author:LiuZ RZR,
pubmed-author:LoC SCS,
pubmed-author:LongZ GZG,
pubmed-author:PanQQ,
pubmed-author:READB EBE,
pubmed-author:SinnEE,
pubmed-author:XiaJ HJH,
pubmed-author:XiaKK,
pubmed-author:XiaoJ FJF,
pubmed-author:YangY FYF,
pubmed-author:YuK PKP
|
| pubmed:issnType |
Print
|
| pubmed:volume |
114
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1071-4
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:10844547-China,
pubmed-meshheading:10844547-Chromosome Mapping,
pubmed-meshheading:10844547-Chromosomes, Human, Pair 12,
pubmed-meshheading:10844547-Humans,
pubmed-meshheading:10844547-Lod Score,
pubmed-meshheading:10844547-Microsatellite Repeats,
pubmed-meshheading:10844547-Pedigree,
pubmed-meshheading:10844547-Porokeratosis,
pubmed-meshheading:10844547-Recombination, Genetic
|
| pubmed:year |
2000
|
| pubmed:articleTitle |
Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1.
|
| pubmed:affiliation |
National Laboratory of Medical Genetics of China, Department of Neurology, Xiangya Hospital, Hunan Medical University, Changsha, China. nlmglcy@public.cs.hn.cn
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|