case_images: PMC2782211_01
case_images: Identification of SLC37A4 gene mutations. (A) Direct sequencing analysis demonstrated a heterozygous C to T transition (arrow; c.443C>T) resulting in a A148V missense mutation was observed in exon 3. (B) A heterozygous 2-bp deletion (arrow; c.1042-1043delCT) resulting in a A347fsx400 mutation in exon 8. Because the sequencing was performed with an anti-sense primer, overlapped peaks appear from the C+G peaks (arrow).
case_images: jkms-20-499-g001.jpg
case_images: PMC2782211_01_jkms-20-499-g001.jpg
case_images: F1
case_images: The second one is a novel mutation, c443C>T, leading to substitution of alanine by valine at codon 148 (A148V) (Fig. 1).