Gene: [05q31/TGFBI] transforming growth factor, beta-induced, 68kD (keratoepithelin); corneal stromal dystrophy 1 (lattice corneal dystrophy type 1; MIM:122200); corneal stromal dystrophy 2 (granular type; Reis-Bucklers type; Groenouw type I; MIM:121900); corneal stromal dystrophy 3 (Avellino type); [CSD1 CSD2 ]
CAG | On corneal dystrophy, macular type (Groenouw type II) see GEM:16q2/MCDC1. |
REF | LIN,LOC "Eiberg H &:
Eur J Hum Genet, 2, 132-138, 1994 LIN,LOC "Gregory CY &: J Med Genet, 32, 224-226, 1995 LOC,MUT "Munier FL &: Nature Genet, 15, 247-251, 1997 CLO,SEQ "Skonier J &: DNA Cell Biol, 11, 511-522, 1992 LIN,LOC "Small KW &: Am J Ophthal, 121, 384-390, 1996 LIN,LOC "Stone EM &: Nature Genet, 6, 47-51, 1994 |
SWI | SWISSPROT: Q15582 |
KEY | cyk, eye |
CLA | coding, basic |
LOC | 05 q31 |
MIM | MIM: 601692 |
SYN | CSD1 CSD2 |
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