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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

Figure 3

Molecular characterization of the c.662-1330_773+46del in CDS family E. A, RT-PCR performed with primers encompassing exons 4, 5, 6 and 7, showing absence of wild-type product (546 bp) in E-II-1 and E-II-2 patients and the presence of a dominant RT product of 464 bp and a minor product of 277 bp resulting from the skipping of exon 5 and of exons 5 and 6, respectively. Lane M: 100-bp molecular weight marker. Lanes II-1 and II-2: CDS patients. Lane I-1: father, carrying the c.662-1330_773+46del mutation in heterozygous state. Lane I-2: mother, carrying the other deletion. Lane C: control. B, Electropherograms of 464 bp and 277 bp abnormal RT-PCR products.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172