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Fig. 1 | Egyptian Journal of Medical Human Genetics

Fig. 1

From: SMA carrier testing using Real-time PCR as a potential preconception screening tool

Fig. 1Fig. 1

MLPA analysis by Coffalyser® software showing the tested probes (32 probes for SMN1, SMN2, NAIP and reference genes) against the median values ratios detected in three amniotic fluid samples from different three families (Normal range: 0.7—1.3). a Heterozygous deletion of exons 7 and 8 of SMN1 in amniotic fluid sample AF5. b Homozygous deletion of exons 7 & 8 of SMN1 in asymptomatic parent of special case family (Family 53). c Normal copies of SMN1 gene in amniotic fluid sample AF4

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