Differences in SMN1 allele frequencies among ethnic groups within North America
نویسندگان
چکیده
منابع مشابه
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 between 1 in 25 and 1 in 50 in the general population. Although SMA is considered to be a pan-ethnic d...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2009
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmg.2009.066969