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Blood/ K3 EDTA (Lavender Top) 3 mL, 1 tube Document: ใบประวัติ LMGG
Real-time PCR detects autosomal recessive mutation of SMN1 gene In individuals affected by SMA, the SMN1 gene is mutated - due to either a deletion occurring at exon 7 or to other point mutations (frequently resulting in the functional conversion of the SMN1 sequence into SMN2).