Gene: [0Xp11/NDP] Norrie disease protein; Norrie disease (pseudoglioma); exudative vitreoretinopathy 2 (familial, X-linked recessive; MIM:305390); [ND EVR2 ]
REF | MOD "Berger
W &: Hum Mol Genet, 5, 51-59, 1996 MUT "Berger W &: Hum Mol Genet, 1, 461-465, 1992a CLO,SEQ "Berger W &: Nature Genet, 1, 199-203, 1992b LIN,LOC "Bleeker-Wagemaker LM &: Hum Genet, 71, 211-214, 1985 MUT "Chen Z-Y &: Hum Mol Genet, 2, 1727-1729, 1993a MUT "Chen Z-Y &: Nature Genet, 5, 180-183, 1993b MUT "Chen Z-Y &: Genomics, 16, 533-535, 1993c MUT "Chen Z-Y &: Hum Mol Genet, 1, 161-164, 1992a CLO,SEQ "Chen Z-Y &: Nature Genet, 1, 204-208, 1992b MUT,LOC "Collins FA &: Am J Med Genet, 42, 127-134, 1992 MUT,PND "de la Chapelle A &: Clin Genet, 28, 317-320, 1985 MUT,LOC "Diergaarde PJ &: Hum Genet, 84, 22-26, 1989 MUT,PND "Donnai D &: J Med Genet, 25, 73-78, 1988 MUT "Fuchs S &: Hum Mol Genet, 3, 655-656, 1994 LIN,LOC "Fullwood P &: Brit J Ophthal, 77, 168-170, 1993 LIN,PND "Gal A &: Am J Med Genet, 31, 449-453, 1988 LOC "Gal A &: CCG, 42, 219-224, 1986 LIN,LOC "Gal A &: CCG, 40, 633, 1985a LIN,LOC "Gal A &: Clin Genet, 27, 282-283, 1985b MUT "Isashiki Y &: Hum Genet, 95, 105-108, 1995 MUT "Joos KM &: Arch Ophthal, 112, 1574-1579, 1994 LOC "Lindsay S &: Hum Genet, 88, 349-350, 1992 MUT "Meindl A &: Hum Mol Genet, 4, 489-490, 1995 MUT "Meindl A &: Nature Genet, 2, 139-143, 1992 LOC "Ohba N, Yamashita: Brit J Ophthal, 70, 64-71, 1986 MUT "Schuback DE &: Hum Mut, 5, 285-292, 1995 MAP "Sims KB &: Hum Mol Genet, 1, 83-89, 1992 MUT "Strasberg P &: Hum Mol Genet, 4, 2179-2180, 1995 MUT "Wong F &: Arch Ophthal, 111, 1553-1557, 1993 MUT,PND "Zhu DP &: Am J Med Genet, 33, 485-488, 1989 |
SWI | SWISSPROT: Q00604 |
KEY | onc, neu, eye, devd |
CLA | coding, basic |
LOC | 0X p11.4-.3 |
MIM | MIM: 310600 |
SYN | ND EVR2 |
