Gene: [22q1/TIMP3] tissue inhibitor of metalloproteinase 3; Sorsby fundus dystrophy, pseudoinflammatory (MIM:136900);
|
REF |
CLO,SEQ,LOC "Apte SS &: JBC, 270, 14313-14318, 1995 CLO,SEQ,LOC "Apte SS &: Genomics, 19, 86-90, 1994 CLO,SEQ,LOC "Gregory CY &: J Med Genet, 32, 240-241, 1995 CLO,SEQ,LOC "Silbiger SM &: Gene, 141, 293-297, 1994 MUT "Weber BH &: Nature Genet, 7, 158-161, 1994a MUT "Weber BH &: Nature Genet, 8, 352-356, 1994b |
|
KEY |
hem, ont, pep |
|
CLA |
coding, basic |
|
LOC |
22 q12-13.2 |
|
MIM |
MIM: 188826 |
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