Gene: [0Xq131/GJB1] gap junction protein, beta 1, 32 kD (connexin 32), liver; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked 1 (MIM:302800); hereditary motor and sensory neuropathy, X-linked 1 (Charcot-Marie-Tooth; MIM:302800); [CMTX1 ]
REL | See GEM:06q2/GJA1. |
REF | LOC,LIN "Beckett J &:
J Neurogenet, 3, 225-231, 1986 LOC,LIN "Beckett J &: CCG, 40, (HGM8), 579, 1985 MUT "Bergoffen J &: Science, 262, 2039-2042, 1993 MUT "Bone LJ &: Neurology, 45, 1863-1866, 1995 LOC "Corcos IA &: Genomics, 13, 479-480, 1992 HIS,PHE,FOG "Cowchock FS &: Am J Med Genet, 20, 307-315, 1985 HIS,PHE,FOG "Erwin WG: J Hered, 35, 24-26, 1944 MUT "Fairweather N &: Hum Mol Genet, 3, 29-34, 1994 LOC,LIN "Fischbeck KH &: Ann Neurol, 20, 527-532, 1986 LOC,LIN "Fischbeck KH &: AJHG, 37, A153, 1985 GEN,SEQ,LOC,EXP,FAG "Fishman GI &: Genomics, 10, N1, 250-256, 1991 HIS,PHE,FOG "Fryns, Van den Berghe: Hum Genet, 55, 413-415, 1980 LOC,LIN "Gal A &: Hum Genet, 70, 38-42, 1985 LOC,LIN "Goonewardena P &: Clin Genet, 33, 435-440, 1988 LOC,LIN "Goonewardena P &: CCG, 46, (HGM9), 622, 1987 HIS,PHE,FOG "Herringham WP: Brain, 11, 230-236, 1889 MUT "Ionasescu VV &: Am J Med Genet, 63, 486-491, 1996 LOC,LIN "Ionasescu VV &: Neurology, 42, N4, 903-908, 1992 HIS,PHE,FOG "Iselius L, Grimby: Hereditas, 97, 157-158, 1982 LOC,LIN "Kelly &: CCG, 46, (HGM9), 638, 1987 REV "Kumar NM, Gilula NB: Cell, 84, 381-388, 1996 MUT "Omori Y &: Mol Biol Cell, 7, 907-916, 1996 HIS,PHE,FOG "Phillips &: Neurology, 35, 498-502, 1985 LOC "Raimondi E &: CCG, 60, 210-211, 1992 HIS,PHE,FOG "Skre H: Clin Genet, 6, 98-118, 1974 |
SWI | SWISSPROT: P08034 |
KEY | mem, myo |
CLA | coding, basic |
LOC | 0X q13.1 |
MIM | MIM: 304040 |
SYN | CMTX1 |
Смотрите также:
