Myosin VIIA Gene: Heterogeneity of the Mutations Responsible for Usher Syndrome Type IB

By Lévy Gallia   Levi-Acobas Fabienne   Blanchard Stéphane   Gerber Sylvie   Larget-Piet Dominique   Chenal Viviane   Liu Xue-Zhong   Newton Valerie   Steel Karen P.   Brown Steve D. M.   Munnich Arnold   Kaplan Josseline   Petit Christine   Weil Dominique  

Human Molecular Genetics, Vol. 6, Iss. 1, 1997-01 ,pp. : 111-116

Oxford University Press

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Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes

By Zheng Qing Yin   Scarborough John D.   Zheng Ye   Yu Heping   Choi Dongseok   Gillespie Peter G.  

Human Molecular Genetics, Vol. 21, Iss. 11, 2012-06 ,pp. : 2588-2598

Oxford University Press

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Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome

By Espinós C.   Millán J. M.   Sánchez F.   Beneyto M.   Nájera C.  

Human Genetics, Vol. 102, Iss. 6, 1998-07 ,pp. : 691-694

Springer Publishing Company

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Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

By Weil Dominique  

Human Molecular Genetics, Vol. 12, Iss. 5, 2003-03 ,pp. : 463-471

Oxford University Press

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Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

By Reiners Jan   van Wijk Erwin   Zimmermann Ulrike   Jürgens Karin   te Brinke Heleen   Overlack Nora   Roepman Ronald   Knipper Marlies   Kremer Hannie   Wolfrum Uwe  

Human Molecular Genetics, Vol. 14, Iss. 24, 2005-12 ,pp. : 3933-3943

Oxford University Press

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