Gene: [05q13/SMN2] survival of motor neuron 2, centromeric; spinal muscular atrophy, type I (infantile acute form; Werdnig-Hoffmann disease; MIM:253300);
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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 |
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KEY |
myo, neu |
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CLA |
coding, basic |
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LOC |
05 q13 |
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MIM |
MIM: 601627 |
