Fig. 2From: Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney diseasePathogenic nucleotide alteration of the PKHD1 gene identified in the paternal allele. Sample names are indicated on the left: FHU14–046 (I-1, father), FHU13–047 (I-2, mother), FHU13–049 (II-1, healthy sibling), FHU13–051 (II-3, proband), and FHU13–068 (II-5, amniotic fluid)Back to article page