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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review

Fig. 1

Pedigree of family in this study. Squares represent male family members, while circles represent female family members. Black symbol represents individual with GSD IXa, blank symbols represent normal individuals. Arrow indicates proband in the family (IIb). Variant carrier status present as N: Normal allele and M: Mutation. The sequence data displayed heterozygous mutation in PHKA2 (c.2972C > G, p.G991A) in proband and his mother (Ib)

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BMC Medical Genetics

ISSN: 1471-2350

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