Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias

By Gouya Laurent   Puy Hervé   Robreau Anne-Marie   Lyoumi Said   Lamoril Jérome   Silva Vasco   Grandchamp Bernard   Deybach Jean-Charles  

Human Genetics, Vol. 114, Iss. 3, 2004-02 ,pp. : 256-262

Springer Publishing Company

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Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients

By Rakovic Aleksandar   Grnewald Anne   Seibler Philip   Ramirez Alfredo   Kock Norman   Orolicki Slobodanka   Lohmann Katja   Klein Christine  

Human Molecular Genetics, Vol. 19, Iss. 16, 2010-08 ,pp. : 3124-3137

Oxford University Press

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Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase

By Koutnikova H.   Campuzano V.   Koenig M.  

Human Molecular Genetics, Vol. 7, Iss. 9, 1998-09 ,pp. : 1485-1489

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A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein

By Lia-Baldini A.   Brun-Heath I.   Carrion C.   Simon-Bouy B.   Serre J.   Nunes M.   Mornet E.  

Human Genetics, Vol. 123, Iss. 4, 2008-05 ,pp. : 429-432

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Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho –/– mice

By Ayuso C.  

Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 547-558

Oxford University Press

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