A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract. [electronic resource]
Producer: 20091027Description: 1521-9 p. digitalISSN:- 1090-0535
- Adult
- Amino Acid Sequence
- Arginine -- genetics
- Asian People
- Base Sequence
- Cataract -- congenital
- Child
- Child, Preschool
- Computational Biology
- DNA Mutational Analysis
- Family
- Female
- Genetic Linkage
- Humans
- Hydrophobic and Hydrophilic Interactions
- Infant
- Male
- Molecular Sequence Data
- Mutant Proteins -- chemistry
- Mutation -- genetics
- Organ Specificity
- Pedigree
- Protein Transport
- Serine -- genetics
- Solubility
- gamma-Crystallins -- chemistry
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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