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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Figure 3

Mutation analysis of GAA gene. A to C Results of sequencing analysis and detection of mutations in exon 2 (c.118C > T [p.R40X]), intron 18 (c.2647-7G > A [p.N882fs]) and exon 16 (c.2276 G > C [p.G759A]). Arrowheads mark the site of base alternations. The sequences of an unaffected sample and an affected subject from the Pompe-affected family are reported. The coding triplets and corresponding amino acids decided according to GAA cDNA are indicated. D Evolutionary conservation of the glycine residue at position 759 was indicated with an arrow.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172