De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia

By Brin M.F.  

Human Molecular Genetics, Vol. 7, Iss. 7, 1998-07 ,pp. : 1133-1136

Oxford University Press

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Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate -secretase activity

By Kim Minji   Suh Jaehong   Romano Donna   Truong Mimy H.   Mullin Kristina   Hooli Basavaraj   Norton David   Tesco Giuseppina   Elliott Kathy   Wagner Steven L.   Moir Robert D.   Becker K. David   Tanzi Rudolph E.  

Human Molecular Genetics, Vol. 18, Iss. 20, 2009-10 ,pp. : 3987-3996

Oxford University Press

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Mutations in the fukutin-related protein gene ( FKRP ) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

By Burgunder J-M.  

Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2851-2859

Oxford University Press

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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

By Longman Cheryl  

Human Molecular Genetics, Vol. 12, Iss. 21, 2003-11 ,pp. : 2853-2861

Oxford University Press

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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

By Muchir Antoine   Bonne Gisèle   van der Kooi Anneke J.   van Mia   Baas Frank   Bolhuis Pieter A.   de Marianne   Schwartz Ketty  

Human Molecular Genetics, Vol. 9, Iss. 9, 2000-05 ,pp. : 1453-1459

Oxford University Press

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