Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

AUTHOR CONTRIBUTIONS Z.M.A., S.R. and T.B.F. conceived and designed the study; S.R. and Z.M.A. performed linkage, RT-PCR, mutational analyses, and cloned isoforms, and provided bioinformatic evaluations; I.A.B. and S.L. conducted immunocytochemistry and quantification analyses on wild type and mutant mice inner ears, transfection assays using sensor