Gene: [0Xq28/ALD] adrenoleukodystrophy; adrenoleukodystrophy/adrenomyeloneuropathy; [AMN ]

REL

GEM:12q1/ALDL1.

REF

LOC "Aubourg P &: Biochimie, 75, 293-302, 1993
FUN "Aubourg P &: AJHG, 46, 459-469, 1990
MAP "Aubourg P &: AJHG, 42, 408-413, 1988
POL "Aubourg P &: Ann Neurol, 21, 349-352, 1987
MUT "Barcelo A &: Hum Mol Genet, 3, 1889-1890, 1994
MUT "Berger J &: BBRC, 205, 1638-1643, 1994
MUT "Braun A &: AJHG, 56, 854-861, 1995
MUT "Cartier N &: Hum Mol Genet, 2, 1949-1951, 1993
ABR "Eichler EE &: Hum Mol Genet, 6, 991-1002, 1997
FUN,PAT "El-Deiry SS &: J Clin Endocrinol Metab, 82, 856-860, 1997
MUT "Faren P &: J Clin Invest, 94, 516-520, 1994
ABR,LOC "Feil RP &: Am J Med Genet, 26, 969, 1991a
ABR,LOC "Feil RP &: CCG, 58, 2063, 1991b
LOC "Feil RP &: CCG, 51, 998, 1989
MUT "Fuchs S &: Hum Mol Genet, 3, 1903-1905, 1994
MUT "Kemp S &: Hum Mut, 6, 272-273, 1995
CLO,SEQ,STR,LOC,MOU "Kennedy MA &: Genomics, 32, 395-400, 1996
CLO,SEQ,STR "Kobayashi T &: BBRC, 201, 1029-1034, 1994
MUT "Kok F &: Hum Mut, 6, 104-115, 1995
MUT "Krasemann EW &: Hum Genet, 97, 194-197, 1996
MUT "Ligtenberg MJL &: AJHG, 56, 44-50, 1995
TER "Malm G &: Acta Paediatr, 86, 484-492, 1997
LOC,EAG "Migeon BR &: PNAS, 78, 5066-5070, 1981
CLO,SEQ "Mosser J &: Hum Mol Genet, 3, 265-271, 1994
CLO,SEQ "Mosser J &: Nature, 361, 726-730, 1993
CLO,SEQ,GEN "Sarde C-O &: Genomics, 22, 13-20, 1994
MGC "Seneca S, Lissens W: J Inherit Metab Dis, 18, 34-44, 1995
LIN,LOC "Van Oost BA &: Hum Genet, 86, 404-407, 1991
LOC "Willems PJ &: Arch Neurol, 47, 665-669, 1990

SWI

SWISSPROT: P33897

KEY

neu, horm

CLA

coding, basic

LOC

0X q28

MIM

MIM: 300100

SYN

AMN

Ссылки: