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Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.

Problems with diagnosis and genetic counseling occur for patients with autosomal recessive proximal spinal muscular atrophy (SMA) who do not show the most common mutation: homozygous absence of at least exon 7 of the telomeric survival motor neuron gene (SMN1). Here we present molecular genetic data...

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Autores principales: Wirth, B, Herz, M, Wetter, A, Moskau, S, Hahnen, E, Rudnik-Schöneborn, S, Wienker, T, Zerres, K
Formato: Artigo
Lenguaje:Inglês
Publicado: 1999
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377870/
https://ncbi.nlm.nih.gov/pubmed/10205265
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