Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA)-Reference-Cited by-同舟云学术

Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA)

Published:2008-04-01 Issue:7 Volume:146A Page:833-842
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Richter Leslie,Flodman Pamela,Barria von-Bischhoffshausen Fernando,Burch Douglas,Brown Sandra,Nguyen Linda,Turner Julia,Spence M. Anne,Bateman J. Bronwyn

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32236/fullpdf

Reference49 articles.

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3. New phenotype associated with an Arg116Cys mutation in the CRYAA gene;Beby;Arch Ophthalmol,2007

4. A positive charge preservation at position 116 of alpha A-crystallin is critical for its structural and functional integrity;Bera;Biochemistry,2002

5. Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain;Bermejo;Am J Med Genet,1998

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