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Figure 2 | BMC Medical Genetics

Figure 2

From: A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

Figure 2

Use of alternative cryptic donor splice sites in PEX6 c.802_815del mutant cells. (a) Northern blot analysis of fibroblast total RNA of patient B1 compared to control, and (b), graphical representation of PEX6 exon 1 and 2 showing the normal 5’-splice donor (GT) and 3’-splice acceptor (AG) sites, and the two upstream cryptic splice donor sites utilized. Sequences flanking the cryptic and wild type splice donor sites are provided. The grey box represents the c.802_815 deletion

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BMC Medical Genetics

ISSN: 1471-2350

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