Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.
Zhao, Xinping C
Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy. [electronic resource] - Ophthalmology Nov 2007 - e39-46 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1549-4713
10.1016/j.ophtha.2007.07.029 doi
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
Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy. [electronic resource] - Ophthalmology Nov 2007 - e39-46 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1549-4713
10.1016/j.ophtha.2007.07.029 doi
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