Gene: [16p13/PMM2] phosphomannomutase 2; carbohydrate-deficient glycoprotein syndrome, type Ia (Jaeken syndrome; MIM:212065);
COM | Matthijs-1997 mapped the PMM2 gene to Chr 16p13 between D16S406 to D16S404. Bjursell-1997 confirmed this location." |
REF | LIN,LOC "Bjursell C &: Genomics, 39, N3, 247-253, 1997 REV,PAT "Chang Y &: Acta Neuropathol, 86, N4, 399-404, 1993 PAT "Fiumara A &: Am J Med Genet, 63, N2, 412-413, 1996 PAT "Fiumara A &: Brit J Ophthal, 78, N11, 845-846, 1994 LIN,LOC,HET "Jaeken J &: J Inherit Metab Dis, 16, N6, 1041-1041, 1993 LIN,LOC "Martinsson T &: Hum Mol Genet, 3, 2037-2042, 1994 LIN,LOC,HET,MUT "Matthijs G &: Nature Genet, 16, N1, 88-92, 1997 LIN,LOC,HET "Matthijs G &: Genomics, 35, N3, 597-599, 1996 PAT "Panneerselvam K, Freeze HH: J Clin Invest, 97, N6, 1478-1487, 1996 PAT "Powell LD &: J Clin Invest, 94, N5, 1901-1909, 1994 LIN,LOC,HET "Stibler H &: Neuropediat, 24, N1, 51-52, 1993 |
SWI | SWISSPROT: O15305 |
KEY | carb |
CLA | coding, basic |
LOC | 16 p13.3-.12 |
MIM | MIM: 601785 |
EZN | ENZYME: 5.4.2.8 |
