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Fig. 3 | Lipids in Health and Disease

Fig. 3

From: Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Fig. 3

Molecular analysis of RR-MADD patient. a Electropherograms of ETFDH exon 5 harboring the c.560C > T mutation (allele 1) and exon 10 with c.1285 + 1G > A (allele 2), compared with control sequences; b RT-PCR from cDNA of RR-MADD patient. Two amplifications are performed using different primer pairs. The first reaction, with primers encompassing exons 10 and 11, detected wild type product (221 nt) in the allele 1; the second, carried out with oligonucleotides encompassing exon 10 and intron 10, shown a product of 368 nt, resulting from retention of intron 10. Lane 1: 100-bp molecular weight marker; Lane 2: patient allele 1; Lane 3: patient allele 2; c Electropherograms of 221 nt normal product (allele 1) and 368 nt aberrant product (allele 2)

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