Gene: [09q341/EPB72] erythrocyte membrane protein band 7.2 (stomatin); stomatocytosis I (potassium-sodium disorder of erythrocyte; MIM:185000); [EPB7 ]


REF

ASS,MUT,PAT "Eber SW &: Brit J Haematol, 72, 452-455, 1989
CLO,SEQ,GEN,EXP,LOC,MOU "Gallagher PG &: Blood, 86, 359-365, 1995
LOC "Gallagher PG &: Genomics, 18, 167-169, 1993
CLO,SEQ,STR "Hiebl-Dirschmied CM &: BBA, 1090, 123-124, 1991
MUT,PAT "Lande WM &: J Clin Invest, 70, 1273-1280, 1982
LOC "Westberg JA &: CCG, 63, 241-243, 1993

SWI

SWISSPROT: P27105

KEY

hem, mem

CLA

coding, basic

LOC

09 q34.1

MIM

MIM: 133090

SYN

EPB7

Смотрите также:

  • Gene: [01p3/EPB41] erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked; 80kD); elliptocytosis 1, hereditary (Rh linked; band 4.1 protein); [E41P HE EL1 ]