Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene nor evidence for linkage to chromosome 5q13 were found in the other patients. Hitherto, arthrogryposis...

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Autors principals: Bürglen, L, Amiel, J, Viollet, L, Lefebvre, S, Burlet, P, Clermont, O, Raclin, V, Landrieu, P, Verloes, A, Munnich, A, Melki, J
Format: Artigo
Idioma:Inglês
Publicat: 1996
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC507534/
https://ncbi.nlm.nih.gov/pubmed/8787675
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