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A novel splice site mutation in the ADAR gene leading to exon skipping and dyschromatosis symmetrica hereditaria in a Japanese patient
Author(s) -
Ansai O.,
Shigehara Y.,
Ito A.,
Abe R.,
Shimomura Y.
Publication year - 2016
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.12981
Subject(s) - exon , adar , mutation , medicine , genetics , splice site mutation , exon skipping , splice , gene , dermatology , biology , alternative splicing , intron , rna editing