Gene: [14q21/PYGL] phosphorylase, glycogen; liver; glycogen storage disease, type VI (Hers disease);


REF

LOC "Billingsley GD &: CCG, 66, N1, 33-38, 1994
MUT "Burwinkel B &: AJHG, 62, N4, 785-791, 1998
MUT "Chang S &: Hum Mol Genet, 7, N5, 865-870, 1998
POL,LOC "Cox DW &: CCG, 51, (HGM10), 980, 1989
POL,LOC "Newgard CB &: AJHG, 40, 351-364, 1987

SWI

SWISSPROT: P06737

KEY

carb, lys, mtbd

CLA

coding, basic

LOC

14 q21

MIM

MIM: 232700

EZN

ENZYME: 2.4.1.1

Смотрите также:

  • Gene: [11q131/PYGM] phosphorylase; muscle (McArdle disease); McArdle disease (muscle glycogen phosphorylase deficiency); glycogen storage disease V (McArdle);