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

鸯铗痂蝈 蜞赕:

  • MMP: 狃桀沐礤 祛痿钽屙彗: MMP: 溴耱痼牿 爨蝠桕襦
  • Gene: [0Xp1123/TIMP1] tissue inhibitor of metalloproteinase 1; erythroid potentiating activity (metalloproteinase inhibitor); collagenase inhibitor; [EPA CLGI ]
  • HUGEN-TIMP