A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA

Spinal muscular atrophy (SMA), the most common autosomal recessive cause of infant death, is typically diagnosed by determination of SMN1 copy number. Approximately 3–5% of patients with SMA retain at least one copy of the SMN1 gene carrying pathogenic insertions, deletions, or point mutations. We r...

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Detalles Bibliográficos
Autores principales: Kirwin, Susan M, Vinette, Kathy M B, Gonzalez, Iris L, Abdulwahed, Hind Al, Al-Sannaa, Nouriya, Funanage, Vicky L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865576/
https://www.ncbi.nlm.nih.gov/pubmed/24498607
http://dx.doi.org/10.1002/mgg3.10

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