Gene: [05q13/SMN2] survival of motor neuron 2, centromeric; spinal muscular atrophy, type I (infantile acute form; Werdnig-Hoffmann disease; MIM:253300);


REF

MUT "Cobben JM &: AJHG, 57, 805-808, 1995
CLO,SEQ,LOC "Lefebvre S &: Cell, 80, 155-165, 1995
MUT "Matthijs G &: J Med Genet, 33, 469-474, 1996
CLO,SEQ,MUT "Schwartz M &: Hum Mol Genet, 6, 99-104, 1997

KEY

myo, neu

CLA

coding, basic

LOC

05 q13

MIM

MIM: 601627

Смотрите также:

  • Gene: [05q13/SMN1] survival of motor neuron 1, telomeric; spinal muscular atrophy, type I (infantile acute form; Werdnig-Hoffmann disease; MIM:253300); spinal muscular atrophy, type II (intermediate form; MIM:253550); spinal muscular atroph