case_images: PMC11730653_01
case_images: Genetic analysis of the SLC12A3 gene.
case_images: medi-104-e41207-g001.jpg
case_images: PMC11730653_01_medi-104-e41207-g001.jpg
case_images: F1
case_images: A base 179 mutation from cytosine to thymine in exon 1, located in band 3 of region 1 of the long arm of chromosome 16, resulted in a substitution from threonine to methionine at amino acid 60 of the protein it encodes (Fig. 1).