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Genetic analysis of a novel splice‐site mutation in TMC 8 reveals the in vivo importance of the transmembrane channel‐like domain of TMC 8
Author(s) -
Miyauchi T.,
Nomura T.,
Suzuki S.,
Takeda M.,
Shinkuma S.,
Arita K.,
Fujita Y.,
Shimizu H.
Publication year - 2016
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.14569
Subject(s) - splice site mutation , splice , genetics , mutation , in vivo , transmembrane domain , transmembrane protein , domain (mathematical analysis) , biology , rna splicing , computational biology , microbiology and biotechnology , alternative splicing , gene , exon , mathematics , mathematical analysis , receptor , rna
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