Gene: [17q21/G6PC] glucose-6-phosphate, catalytic; glycogen storage disease type Ia (von Gierke disease);


REL

GEM:00.0/G6PR; GEM:11q23/G6PT1; GEM:00.0/G6PT2; GEM:00.0/G6PT3.

REF

LOC "Brody LC &: Genomics, 25, 238-247, 1995
MUT,SEQ "Lei K-J &: AJHG, 57, 766-771, 1995a
MUT,SEQ "Lei K-J &: J Clin Invest, 95, 234-240, 1995b
MUT,SEQ "Lei K-J &: J Clin Invest, 93, 1994-1999, 1994
MUT,SEQ "Lei K-J &: Science, 262, 580-583, 1993

CLA

coding, basic

LOC

17 q21

MIM

MIM: 232200

EZN

ENZYME: 3.1.3.9