case_images: PMC2821378_01
case_images: Family pedigree showing the haplotypes and analytical findings. In addition to the c.418 G>A mutation, the genotypes for the intron 3+c.123 C>T, exon 8 c.942 T>C, and intron 12+c.267 G>C are also indicated.
case_images: 1750-1172-5-1-1.jpg
case_images: PMC2821378_03_1750-1172-5-1-1.jpg
case_images: F1
case_images: In addition to G78R, the patient was heterozygous for several polymorphisms (Figure 1).
case_images: PMC2821378_02
case_images: PMC2821378_03
case_images: Family pedigree showing the haplotypes and analytical findings. In addition to the c.418 G>A mutation, the genotypes for the intron 3+c.123 C>T, exon 8 c.942 T>C, and intron 12+c.267 G>C are also indicated.
case_images: 1750-1172-5-1-1.jpg
case_images: PMC2821378_03_1750-1172-5-1-1.jpg
case_images: F1
case_images: In addition to G78R, the patient was heterozygous for several polymorphisms (Figure 1).