PMC4272945_01
The pedigree and the results of sequencing. (A) Pedigree demonstrating the inheritance of the Ael03 allele. The phenotype and genotype are indicated below each symbol. The arrow indicates proband. (B) Schemes for generation of frame shift mutation caused by single-base deletion at nucleotide 804.
alm-35-137-g001.jpg
PMC4272945_01_alm-35-137-g001.jpg
F1
The patient, his brother, and his son had the Ael03 allele in common, resulting in a frame shift mutation caused by a single-base deletion at nucleotide 804 (Fig. 1).