Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population - Bashir, Zil-e-Huma; Latief, Noreen; Belyantseva, Inna A; Iqbal, Farheena; Amer Riazuddin, Sheikh; Khan, Shaheen N; Friedman, Thomas B; Riazuddin, Sheikh; Riazuddin, Saima (Journal of human genetics, 2013)
Keywords: Alleles; Chromosome 21; Claudins - genetics; Deafness; Environmental factors; Exons; Female; Genetic variability; Hair cells; Haplotypes; Hearing loss; Hearing Loss - genetics; Hearing protection; Humans; Inner ear; Introns; Male; Mutation; Noise; Organ of Corti; Pakistan; Pedigree; Phenotype; Phenotypes; Tight junctions; Pakistan