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Mutations in CIB2 calcium and integrin‐binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non‐syndromic deafness DFNB48
Author(s) -
Jan A
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12100
Subject(s) - usher syndrome , hair cell , calcium , calcium binding protein , mutation , integrin , hearing loss , biology , microbiology and biotechnology , genetics , medicine , inner ear , cell , anatomy , gene , audiology , retinitis pigmentosa
Alterations of the CIB2 calcium‐ and integrin‐binding protein cause Usher syndrome type 1J and non‐syndromic deafness DFNB48 Riazuddin et al. (2012) Nature Genetics 44(11):1265–1271