|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
|
23508780 |
2013 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
CausalMutation
|
CLINVAR |
Identification of the p. R116H mutation in a Chinese family with novel variable cataract phenotype: evidence for a mutational hot spot in αA-crystallin gene.
|
22216983 |
2012 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
CausalMutation
|
CLINVAR |
Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin.
|
22045060 |
2012 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
CausalMutation
|
CLINVAR |
Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway.
|
22140512 |
2011 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
CausalMutation
|
CLINVAR |
Effects of congenital cataract mutation R116H on alphaA-crystallin structure, function and stability.
|
20079887 |
2010 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).
|
18302245 |
2008 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).
|
18302245 |
2008 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.
|
18407550 |
2008 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
CausalMutation
|
CLINVAR |
Differential binding of mutant (R116C) and wildtype alphaA crystallin to actin.
|
18085469 |
2007 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
CausalMutation
|
CLINVAR |
New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.
|
17296897 |
2007 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
CausalMutation
|
CLINVAR |
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
|
17724170 |
2007 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
CausalMutation
|
CLINVAR |
A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.
|
16735993 |
2006 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.
|
16453125 |
2006 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.
|
14512969 |
2003 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
CausalMutation
|
CLINVAR |
Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts.
|
11123904 |
2000 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts.
|
11123904 |
2000 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation of R116C results in highly oligomerized alpha A-crystallin with modified structure and defective chaperone-like function.
|
10684623 |
2000 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
|
9467006 |
1998 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
CausalMutation
|
CLINVAR |
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
|
9467006 |
1998 |