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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China

Fig. 2

Pedigrees of our patients with GSD IIIa and mutation analysis of AGL gene. Filled circles and squares represent affected females and males, respectively. Proband is indicated with an arrow; a. patient 1 (II:1) from family 1. The DNA sequence chromatogram of the proband indicates AGL c.206dupA homozygous mutation indicated with an arrow; b. patient 2 (II:1) from family 2. The DNA sequence chromatogram of the proband indicates AGL c.1735 + 1G > T homozygous mutation with an arrow; c. patient 3 (II:1) and patient 4 (II:2) from family 3. The DNA sequence chromatogram of the proband indicates AGL C.1735 + 1G > T and AGL c.2590 C>T compound heterozygous mutations indicated with arrows

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BMC Medical Genetics

ISSN: 1471-2350

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