A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus

By Guillonneau Xavier  

Human Molecular Genetics, Vol. 8, Iss. 8, 1999-08 ,pp. : 1541-1546

Oxford University Press

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Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa

By Mendes Hugo F.   Cheetham Michael E.  

Human Molecular Genetics, Vol. 17, Iss. 19, 2008-10 ,pp. : 3043-3054

Oxford University Press

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Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for Rhodopsin Pro23His human retinitis pigmentosa

By Galy Anne  

Human Molecular Genetics, Vol. 14, Iss. 17, 2005-09 ,pp. : 2547-2557

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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Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA

By Geromel V.  

Human Molecular Genetics, Vol. 10, Iss. 11, 2001-05 ,pp. : 1221-1228

Oxford University Press

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