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Genetic causes of hearing loss.
Cremers FP. Cremers FP. Curr Opin Neurol. 1998 Feb;11(1):11-6. doi: 10.1097/00019052-199802000-00003. Curr Opin Neurol. 1998. PMID: 9484611 Review.
Myosin 7A, a gene previously implicated in Usher syndrome type 1B, was also found to be mutated in non-syndromic hearing loss. Likewise, linkage studies in Pendred syndrome and Usher syndrome type 1D suggest that allelic mutations can cause syndromic a …
Myosin 7A, a gene previously implicated in Usher syndrome type 1B, was also found to be mutated in non-syndromic hearing loss. Likewise, lin …
Ca2+ homeostasis defects and hereditary hearing loss.
Mammano F. Mammano F. Biofactors. 2011 May-Jun;37(3):182-8. doi: 10.1002/biof.150. Biofactors. 2011. PMID: 21698697 Review.
This may provide a clue as to why, in some cases, PMCA2 mutations potentiated the deafness phenotype induced by coexisting mutations of cadherin-23 (Usher syndrome type 1D), a single pass membrane Ca(2+) binding protein that is abundantly expressed in …
This may provide a clue as to why, in some cases, PMCA2 mutations potentiated the deafness phenotype induced by coexisting mutations of cadh …