Congenital cataracts: de novo gene conversion event in CRYBB2. [electronic resource]
Producer: 20150626Description: 1579-93 p. digitalISSN:- 1090-0535
- Adult
- Aged
- Base Sequence
- Case-Control Studies
- Cataract -- congenital
- Child
- Chromosomes, Human, Pair 22
- Consanguinity
- Exome
- Exons
- Female
- Gene Conversion
- Genes, Dominant
- Genetic Linkage
- Humans
- Jews
- Lens, Crystalline -- metabolism
- Male
- Models, Genetic
- Molecular Sequence Data
- Pedigree
- Sequence Analysis, DNA
- beta-Crystallin B Chain -- genetics
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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