Gene: [0Xp223/OA1] albinism, ocular, type 1 (Nettleship-Falls);


REF

CLO,SEQ,EXP,MUT "Bassi MT &: Nature Genet, 10, 13-19, 1995
LIN,LOC,MAG "Bergen AAB &: Genomics, 16, 272-273, 1993
LIN,LOC "Bergen AAB &: CCG, 58, 2058, 1991
LIN,LOC,MAG "Charles SJ &: Genomics, 16, 259-261, 1993
LOC,MUT "Meindl A &: J Med Genet, 30, 838-842, 1993
LIN,HET "Schnur RE &: AJHG, 55, 484-496, 1994
LOC,MUT "Schnur RE &: CCG, 51, 1116, 1989
LIN,LOC "Zhang Y &: J Med Genet, 30, 923-925, 1993

SWI

SWISSPROT: P51810

KEY

eye

CLA

coding, basic

LOC

0X p22.3

MIM

MIM: 300500

Смотрите также:

  • OA1 Ген (глазной альбинизм, Nettleship-Falls тип)
  • Gene: [0Xp223/OASD] albinism, ocular, with late-onset sensorineural deafness;