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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Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids

By Bahloul Amel   Michel Vincent   Hardelin Jean-Pierre   Nouaille Sylvie   Hoos Sylviane   Houdusse Anne   England Patrick   Petit Christine  

Human Molecular Genetics, Vol. 19, Iss. 18, 2010-09 ,pp. : 3557-3565

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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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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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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