Gene: [0Xq211/POU3F4] POU domain, class 3, transcription factor 4 (brain specific); deafness, X-linked 3, conductive, with fixed stapes (perilymphatic gusher-deafness syndrome; MIM:304400); [BRN4 OTF9 ]


REF

PAT,FOG,LOC "Bach I &: Hum Genet, 89, 620-624, 1992
SEQ,MUT "Bitner-Glindzicz M &: Hum Mol Genet, 4, 1467-1469, 1995
SEQ,MUT "de Kok YJM &: Hum Mol Genet, 4, 2145-2150, 1995a
SEQ,MUT "de Kok YJM &: Science, 267, 685-688, 1995b
LOC,MOU "Douville PJ &: Mammal Genome, 5, 180-182, 1994
SEQ,MUT "Huber I &: Hum Mol Genet, 3, 1151-1154, 1994
PAT,MUT "Piussan C &: AJHG, 56, 224-230, 1995
PAT,FOG,LOC "Reardon W &: CCG, 58, (HGM11), 2084, 1991

KEY

trc, neu

CLA

coding, basic

LOC

0X q21.1

MIM

MIM: 300039

SYN

BRN4 OTF9

Смотрите также:

  • Gene: [0Xq22/DDP] deafness/dystonia peptide; deafness, X-linked 1, progressive; Mohr-Tranebjaerg syndrome; [DFN1 MTS DXS1 ]