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A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens
- Source :
- Human mutation. 33(2)
- Publication Year :
- 2011
-
Abstract
- Congenital cataract is one of the leading causes of human blindness. In this study, we identified a novel, heterozygous c.385G
- Subjects :
- Male
Models, Molecular
Candidate gene
Mutant
Molecular Sequence Data
Cataract
Crystallin
Genetics
Animals
Humans
Amino Acid Sequence
gamma-Crystallins
Child
Zebrafish
Genetics (clinical)
biology
Base Sequence
Protein Stability
Congenital nuclear cataract
biology.organism_classification
Phenotype
eye diseases
Protein tertiary structure
Pedigree
Protein Structure, Tertiary
Amino Acid Substitution
Mutation (genetic algorithm)
Mutation
Female
sense organs
Sequence Alignment
Subjects
Details
- ISSN :
- 10981004
- Volume :
- 33
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Human mutation
- Accession number :
- edsair.doi.dedup.....9677d454c563145f77dbaea6c9072eb1