Linked Life Data

17021765

Source:http://linkedlifedata.com/resource/pubmed/id/17021765

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2006-11-19
pubmed:abstractText
Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of hyperpigmented and hypopigmented macules on face and dorsal aspects of the extremities that appear in infancy or early childhood. Genetic studies have identified mutations in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. Here, we report two novel mutations c.2116 G > A (E706K) and c.2848 C > T (Q950X) in the DSRAD gene identified in two Chinese pedigrees with DSH. This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on DSRAD gene mutations in DSH.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0340-3696
pubmed:author
pubmed:issnType
Print
pubmed:volume
298
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
357-60
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria.
pubmed:affiliation
Department of Dermatology, Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, People's Republic of China. kateljy@yahoo.com.cn
pubmed:publicationType
Journal Article