Gene deletions in spinal muscular atrophy.

Two candidate genes (NAIP and SMN) have recently been reported for childhood onset spinal muscular atrophy (SMA). Although affected subjects show deletions of these genes, these deletions can lead to either a very mild or a severe phenotype. We have analysed a large number of clinically well defined...

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Главные авторы: Rodrigues, N R, Owen, N, Talbot, K, Patel, S, Muntoni, F, Ignatius, J, Dubowitz, V, Davies, K E
Формат: Artigo
Язык:Inglês
Опубликовано: 1996
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051831/
https://ncbi.nlm.nih.gov/pubmed/8929942
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