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SMN1 dosage analysis in spinal muscular atrophy from India

BACKGROUND: Spinal muscular atrophy (SMA) represents the second most common fatal autosomal recessive disorder after cystic fibrosis. Due to the high carrier frequency, the burden of this genetic disorder is very heavy in developing countries like India. As there is no cure or effective treatment, g...

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Detalles Bibliográficos
Autores principales: Kesari, Akanchha, Rennert, Hanna, Leonard, Debra GB, Mittal, Balraj
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1174872/
https://www.ncbi.nlm.nih.gov/pubmed/15910686
http://dx.doi.org/10.1186/1471-2350-6-22