Gene: [15q2/MPI] mannose phosphate isomerase; carbohydrate-deficient glycoprotein syndrome, type Ib (due to phosphomannose isomerase deficiency; MIM:602579);

REF

LOC,LIN,CYG "Chern CJ &: Somat Cell Genet, 3, 553-560, 1977
LOC,LIN,CYG "Chern CJ, Croce: CCG, 15, 299-305, 1975
MUT "Jaeken J &: AJHG, 62, N6, 1535-1539, 1998
LOC,LIN,CYG "McMorris FA &: Science, 179, (16 Mar), 1129-1131, 1973
MUT,PAT "Niehues R &: J Clin Invest, 101, N7, 1414-1420, 1998
FOG,POL "Ritter &: Humangenetik, 22, 261-262, 1974
LOC,LIN,CYG "Shows TB: AJHG, 24, 13A, 1972
LOC,LIN,CYG "van Heyningen V &: Ann Hum Genet, 38, 295-303, 1975

SWI

 SWISSPROT: P34949

KEY

carb

CLA

coding, basic

LOC

15 q22-26

MIM

 MIM: 154550

EZN

 ENZYME: 5.3.1.8