Correlation between severity and SMN protein level in spinal muscular atrophy-Reference-Cited by-同舟云学术

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Correlation between severity and SMN protein level in spinal muscular atrophy

Published:1997-07 Issue:3 Volume:16 Page:265-269
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Lefebvre Suzie,Burlet Philippe,Liu Qing,Bertrandy Solange,Clermont Olivier,Munnich Arnold,Dreyfuss Gideon,Melki Judith

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0797-265.pdf

Reference17 articles.

1. Munsat, T.L. Workshop report: international SMA collaboration. Neuromusc. Disord. 1, 81 (1991).

2. Lefebvre, S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155–165 (1995).

3. Bussaglia, E. et al. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nature Genet. 11, 335–337 (1995).

4. Rodrigues, N.R. et al. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum. Mol. Genet. 4, 631–634 (1995).

5. Van der Steege, G. et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 345, 985–986 (1995).

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