Differences in SMN1 allele frequencies among ethnic groups within North America

BACKGROUND: Spinal muscular atrophy (SMA) is the most common inherited lethal disease of children. Various genetic deletions involving the bi-allelic loss of SMN1 exon 7 are reported to account for 94% of affected individuals. Published literature places the carrier frequency for SMN1 mutations betw...

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Detalles Bibliográficos
Autores principales: Hendrickson, B C, Donohoe, C, Akmaev, V R, Sugarman, E A, Labrousse, P, Boguslavskiy, L, Flynn, K, Rohlfs, E M, Walker, A, Allitto, B, Sears, C, Scholl, T
Formato: Texto
Lenguaje:English
Publicado: BMJ Group 2009
Materias:
Letter to JMG
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2729371/
https://www.ncbi.nlm.nih.gov/pubmed/19625283
http://dx.doi.org/10.1136/jmg.2009.066969

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