Fig. 3

Mutational analysis in the patient pedigree. a The genotypes of G6PC gene for family members. Roman numerals indicate generations and Arabic numbers indicate individuals. Squares = males, circles = females. Affected individuals are denoted by solid symbols and unaffected individuals are denoted by open symbols. The index patient is indicated by an arrow. The two mutations were inherited from father and mother respectively. b Validation for the c.G648T of exon 5 by Sanger Sequencing. The red frame was mutation point