Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy. [electronic resource]
Producer: 20071113Description: e39-46 p. digitalISSN:- 1549-4713
- Age of Onset
- Bowman Membrane -- pathology
- Child
- Child, Preschool
- Corneal Dystrophies, Hereditary -- genetics
- Corneal Transplantation
- DNA Mutational Analysis
- Extracellular Matrix Proteins -- genetics
- Genetic Predisposition to Disease
- Humans
- Male
- Microsatellite Repeats
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Retrospective Studies
- Transforming Growth Factor beta -- 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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