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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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Autori principali: Kesari, Akanchha, Rennert, Hanna, Leonard, Debra GB, Mittal, Balraj
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2005
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1174872/
https://ncbi.nlm.nih.gov/pubmed/15910686
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-6-22
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