| http://www.w3.org/ns/prov#value | - A vast majority (90???98%) of SMA patients have homozygous deletions of SMN1 exons 7 and 8 [8, 12, 13], the remaining ones carrying SMN1 intragenic mutations [8, 14, 15], with a frequency higher in type I than in types II and III.Conversely, SMN2 homozygous inactivation is not directly responsible for SMA [8].
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