TY  - GEN
AU  - Hilton,E N
AU  - Black,G C M
AU  - Manson,F D C
AU  - Schorderet,D F
AU  - Munier,F L
TI  - De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy
SN  - 0007-1161
PY  - 2007///0911
KW  - Adolescent
KW  - Corneal Dystrophies, Hereditary
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Extracellular Matrix Proteins
KW  - Female
KW  - Humans
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - Transforming Growth Factor beta
N1  - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/bjo.2006.103283
ER  -