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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BMJ Group
2009
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Materias: | |
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 |