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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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Detalhes bibliográficos
Main Authors: Rodrigues, N R, Owen, N, Talbot, K, Patel, S, Muntoni, F, Ignatius, J, Dubowitz, V, Davies, K E
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051831/
https://ncbi.nlm.nih.gov/pubmed/8929942
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