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Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay

Spinal muscular atrophy (SMA) is an autosomal inherited neuromuscular genetic disease caused, in 95% of cases, by homozygous deletions involving the SMN1 gene exon 7. It remains the leading cause of death in children under 2 years of age. New treatments have been developed and adopted for use in man...

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Detalles Bibliográficos
Autores principales:	Adams, Stuart P., Gravett, Emma, Kent, Natalie, Kricke, Susanne, Ifederu, Adeboye, Scoto, Mariacristina, Samsuddin, Salma, Muntoni, Francesco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8629004/ https://www.ncbi.nlm.nih.gov/pubmed/34842601 http://dx.doi.org/10.3390/ijns7040069

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