Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2007-1-17
pubmed:abstractText
Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal-dominant inheritance. We have reported 20 different mutations of the adenosine deaminase acting on RNA 1 gene (ADAR1) in patients with DSH since we had clarified that the disease is caused by a mutation of the ADAR1 gene in 2003. In this study, we report 10 novel mutations responsible for DSH: p.Q102fsX123, p.T369fsX374, p.S664fsX677, p.R892L, p.I913R, p.R916Q, p.P990fsX1016, p.C1081S, p.C1169F, and p.K1187X.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1523-1747
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
127
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
309-11
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria.
pubmed:affiliation
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't