A missense mutation in CRYBA4 associated with congenital cataract and microcornea. [electronic resource]
Producer: 20100825Description: 1019-24 p. digitalISSN:- 1090-0535
- Adolescent
- Adult
- Amino Acid Substitution
- Base Sequence
- Cataract -- congenital
- Child
- Child, Preschool
- Cornea -- abnormalities
- Eye Abnormalities -- genetics
- Female
- Glycine
- Guanine
- Humans
- Male
- Models, Chemical
- Molecular Biology -- methods
- Mutation, Missense
- Pedigree
- Thymine
- Tryptophan
- Young Adult
- beta-Crystallin A Chain -- chemistry
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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