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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Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form

By Heidrych Paulina   Zimmermann Ulrike   Bre Andreas   Pusch Carsten M.   Ruth Peter   Pfister Markus   Knipper Marlies   Blin Nikolaus  

Human Molecular Genetics, Vol. 17, Iss. 23, 2008-12 ,pp. : 3814-3821

Oxford University Press

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Human Usher 1B/Mouse shaker-1 : The Retinal Phenotype Discrepancy Explained By The Presence/Absence of Myosin VIIA in The Photoreceptor Cells

By El-Amraoui Aziz   Sahly Iman   Picaud Serge   Sahel José   Abitbol Marc   Petit Christine  

Human Molecular Genetics, Vol. 5, Iss. 8, 1996-01 ,pp. : 1171-1178

Oxford University Press

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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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Understanding hereditary diseases using the dog and human as companion model systems

By Tsai Kate  

Mammalian Genome, Vol. 18, Iss. 6-7, 2007-07 ,pp. : 444-451

Springer Publishing Company

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