PMC2779314_01
(A) Direct sequence analysis at exon 1 and exon 3 of the aquaporin-2 genes originating from the patient, her mother and her father. The small squares indicate the sites of point mutation. (B) The pedigree showing autosomal recessive mode of inheritance.
jkms-20-1076-g001.jpg
PMC2779314_01_jkms-20-1076-g001.jpg
F1
Two heterozygous missense point mutations were detected in the patient; 70Ala (GCC) to Asp (GAC) in exon 1 inherited from her father and 187Arg (CGC) to His (CAC) in exon 3 inherited from her mother (Fig. 1).