Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

By Litt M.  

Human Molecular Genetics, Vol. 7, Iss. 3, 1998-03 ,pp. : 471-474

Oxford University Press

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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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A Gene for Autosomal Dominant Late-Onset Progressive Non-Syndromic Hearing Loss, DFNA10 , Maps to Chromosome 6

By O'Neill Marsha E.   Marietta Jacquie   Nishimura Darryl   Wayne Sigrid   Van Camp Guy   Van Laer Lut   Negrini Clelia   Wilcox Edward R.   Chen Achih   Fukushima Kunihiro   Ni Li   Sheffield Val C.   Smith Richard J. H.  

Human Molecular Genetics, Vol. 5, Iss. 6, 1996-01 ,pp. : 853-856

Oxford University Press

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Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human β-Crystallin Gene CRYBB2

By Litt Michael  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 665-668

Oxford University Press

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A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

By Payne A.M.  

Human Molecular Genetics, Vol. 7, Iss. 2, 1998-02 ,pp. : 273-277

Oxford University Press

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