PMC6330728_01
(a) Wild-type sequence of exon 9 of ALDOB around position c.1693 and mutation identified in the patient and (b) electropherogram of the corresponding region.
10.1177_2050313X18823098-fig1.jpg
PMC6330728_01_10.1177_2050313X18823098-fig1.jpg
fig1-2050313X18823098
We identified a single homozygous point mutation consisting of a T A substitution in position 1693 of the ALDOB transcript (c.1693T A against cDNA reference sequence NM_000035.3), within the 3'UTR of exon 9, 515 nucleotides downstream the stop codon (Figure 1).