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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib

Fig. 1

The exome sequencing results of the 3 patients and their parents. A1, patient 1 exon 10 sequencing showed variant c. 1016G > A (p.Gly339Asp) A2, patient 1 exon 6 sequencing showed variant c. 572C > T (p.Pro191Leu); B1, patient 2 exon 10 sequencing showed variant c. 343G > A (p.Gly115Arg), B2, patient 2 exon 6 sequencing showed variant c. 572C > T (p.Pro191Leu); C1, patient 3 exon 7 sequencing showed variant c. 680G > A (p.Trp227Ter), C2, patient 3 exon 7 sequencing showed variant c. 870 + 5G > A; A3, B3, and C3 are the pedigrees of the 3 patients

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BMC Medical Genomics

ISSN: 1755-8794

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