Linked Life Data

18627385

Source:http://linkedlifedata.com/resource/pubmed/id/18627385

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-9-19
pubmed:abstractText
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the limbs. Genetic studies have identified mutations in the DSRAD gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. In this study, we identified a novel mutation of DSRAD gene in a Chinese family with DSH. The mutation is a novel heterozygous nucleotide T-->C transition at position 3617 in exon 15 of the DSRAD gene, which induces a M1206T change in the putative deaminase domain of DSRAD. Our study expands the database on the DSRAD gene mutations in DSH.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1365-2230
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
33
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
644-6
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Identification of a novel DSRAD gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria.
pubmed:affiliation
Department of Dermatology, Wuxi Second Affiliated Hospital of Nanjing Medical University and, Wuxi No 2 People's Hospital, Wuxi, Jiangsu, China. aypyslm@163.com
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't