Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families

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Bibliographic Details
Published inInternational journal of dermatology Vol. 53; no. 3; pp. e194 - e196
Main Authors Kono, Michihiro, Suganuma, Mutsumi, Ito, Yasutomo, Ujiie, Hideyuki, Morimoto, Kenichi, Akiyama, Masashi
Format Journal Article
LanguageEnglish
Published England Blackwell Publishing Ltd 01.03.2014
Subjects
Adenosine Deaminase - chemistry
Adenosine Deaminase - genetics
Amino Acid Sequence
Asian Continental Ancestry Group - genetics
Female
Gene Deletion
Humans
Male
Molecular Sequence Data
Pedigree
Pigmentation Disorders - congenital
Pigmentation Disorders - genetics
Point Mutation
Protein Structure, Tertiary - genetics
RNA-Binding Proteins - chemistry
RNA-Binding Proteins - genetics
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More Information
Bibliography:ark:/67375/WNG-H1314XKD-K
Ministry of Health, Labor and Welfare of Japan - No. H23-070
ArticleID:IJD5765
istex:8BD6E42F308FB0F0B69199895A422DB2FADFE611
Ministry of Education, Science and Culture of Japan - No. 21591460
SourceType-Other Sources-1
ObjectType-Article-2
content type line 63
ObjectType-Correspondence-1
ISSN:0011-9059
1365-4632
DOI:10.1111/j.1365-4632.2012.05765.x