Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene

By Anderson Sylvia   Ekstein Josef   Donnelly Mary   Keefe Erin   Toto Nicole   LeVoci Lauretta   Rubin Berish  

Human Genetics, Vol. 115, Iss. 3, 2004-08 ,pp. : 185-190

Springer Publishing Company

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A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

By Sjöberg Gunnar   Saavedra-Matiz Carlos A.  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2191-2198

Oxford University Press

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Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/–KTS splice isoforms

By Klamt B.  

Human Molecular Genetics, Vol. 7, Iss. 4, 1998-04 ,pp. : 709-714

Oxford University Press

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Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia

By Sun Xi-Ming  

Human Molecular Genetics, Vol. 14, Iss. 9, 2005-05 ,pp. : 1161-1169

Oxford University Press

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Skeletal muscle repair in a mouse model of nemaline myopathy

By Sanoudou Despina   Corbett Mark A.   Han Mei   Ghoddusi Majid   Nguyen Mai-Anh T.   Vlahovich Nicole   Hardeman Edna C.  

Human Molecular Genetics, Vol. 15, Iss. 17, 2006-09 ,pp. : 2603-2612

Oxford University Press

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