Gene: [15q1/OCA2] P protein; albinism, oculocutaneous, II (pink-eye dilution (murine) homolog);


REF

MUT "Durham-Pierre D &: Hum Mut, 7, N4, 370-373, 1996
MUT "Durham-Pierre D &: Nature Genet, 7, 176-179, 1994
MUT "Kedda MA &: AJHG, 54, 1078-1084, 1994
CLO,SEQ,STR,EXP "Lee S-T &: Genomics, 26, 354-363, 1995
MUT "Lee S-T &: Hum Mol Genet, 3, 2047-2051, 1994a
MUT "Lee S-T &: New Engl J Med, 330, N8, 529-534, 1994b
CLO,SEQ,LOC "Ramsay M &: AJHG, 51, 879-884, 1992
CLO,SEQ,LOC "Rinchik EM &: Nature, 361, 72-76, 1993
CLO,SEQ,LOC "Rosemblat S &: PNAS, 91, N25, 12071-12075, 1994
MUT "Spritz RA &: AJHG, 56, 1320-1323, 1995
MUT "Stevens G &: AJHG, 56, 586-591, 1995

SWI

SWISSPROT: Q04671

KEY

mem, eye

CLA

coding, basic

LOC

15 q11.2-12

MIM

MIM: 203200

Смотрите также:

  • OCA-2 Ген (кожно-глазной альбинизм)
  • Gene: [06q1/OA3] albinism, ocular, type 3 (autosomal recessive); [AOR ]