Usher syndromes due to MYO7A , PCDH15 , USH2A or GPR98 mutations share retinal disease mechanism

By Jacobson Samuel G.   Cideciyan Artur V.   Aleman Tomas S.   Sumaroka Alexander   Roman Alejandro J.   Gardner Leigh M.   Prosser Haydn M.   Mishra Monalisa   Bech-Hansen N. Torben   Herrera Waldo   Schwartz Sharon B.   Liu Xue-Zhong   Kimberling William J.   Steel Karen P.   Williams David S.  

Human Molecular Genetics, Vol. 17, Iss. 15, 2008-08 ,pp. : 2405-2415

Oxford University Press

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A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

By Ebermann Inga   Scholl Hendrik   Charbel Issa Peter   Becirovic Elvir   Lamprecht Jürgen   Jurklies Bernhard   Millán José   Aller Elena   Mitter Diana   Bolz Hanno  

Human Genetics, Vol. 121, Iss. 2, 2007-04 ,pp. : 203-211

Springer Publishing Company

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Interactions in the network of Usher syndrome type 1 proteins

By Adato Avital  

Human Molecular Genetics, Vol. 14, Iss. 3, 2005-02 ,pp. : 347-356

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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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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