Link between a novel human γ D-crystallin allele and a unique cataract phenotype explained by protein crystallography

By Kmoch Stanislav   Brynda Jirí  

Human Molecular Genetics, Vol. 9, Iss. 12, 2000-07 ,pp. : 1779-1786

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

Springer Publishing Company

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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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Linkage of Polymorphic Congenital Cataract to the γ-Crystallin Gene Locus on Human Chromosome 2q33–35

By Rogaev Evgeny I.   Rogaeva Ekaterina A.   Korovaitseva Galina I.   Farrer Lindsay A.   Petrin Alexander N.   Keryanov Sergey A.   Turaeva Shirine   Chumakov Ilya   George-Hyslop Peter St.   Ginter Eugeny K.  

Human Molecular Genetics, Vol. 5, Iss. 5, 1996-01 ,pp. : 699-703

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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