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 |