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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FLJ14813 Missense Mutation: A Candidate for Autosomal Dominant Thrombocytopenia on Human Chromosome 10

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Human Heredity, Vol. 55, Iss. 1, 2003-08 ,pp. : 66-70

Karger

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An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

By Monnier Nicole  

Human Molecular Genetics, Vol. 9, Iss. 18, 2000-11 ,pp. : 2599-2608

Oxford University Press

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Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone–rod dystrophy

By Wilkie Susan E.   Newbold RichardJ.  

Human Molecular Genetics, Vol. 9, Iss. 20, 2000-12 ,pp. : 3065-3073

Oxford University Press

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Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)

By Luijendijk Mirjam   Wijk Erwin   Bischoff Anne   Krieger Elmar   Huygen Patrick   Pennings Ronald   Brunner Han   Cremers Cor   Cremers Frans   Kremer Hannie  

Human Genetics, Vol. 115, Iss. 2, 2004-07 ,pp. : 149-156

Springer Publishing Company

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