References for disease Autosomal dominant cataract

All publications related to disease Autosomal dominant cataract. To link directly to a specific first author surname click on the required letter below.

CJMZ

C

Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, Bruchis A, Hess JF, FitzGerald PG, Weeks DE, Ferrell RE, Gorin MB
A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.
Am J Hum Genet 2000 66(4) 1426-1431 PubMed: 10729115

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J

Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M
Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.
Am J Hum Genet 2000 66(4) 1432-1436 PubMed: 10739768

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M

Müller M, Bhattacharya SS, Moore T, Prescott Q, Wedig T, Herrmann H, Magin TM
Dominant cataract formation in association with a vimentin assembly disrupting mutation.
Hum Mol Genet 2009 18(6) 1052-1057 PubMed: 19126778

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Z

Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF
Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
Mol Vis 2004 10() 890-900 PubMed: 15570218

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This page was last modified: April 17 2009 14:28:35.