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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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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Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract

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Molecular Syndromology, Vol. 7, Iss. 2, 2016-04 ,pp. : 87-92

Karger

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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 deletion mutation in the βA1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family

By Qi Yanhua   Jia Hongyan   Huang Shangzhi   Lin Hui   Gu Jingzhi   Su Hong   Zhang Tieying   Gao Ya   Qu Lijun   Li Dandan   Li Ying  

Human Genetics, Vol. 114, Iss. 2, 2004-01 ,pp. : 192-197

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