Fig. 1 | European Journal of Human Genetics

Fig. 1

From: Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

Fig. 1

Sequence analysis of exon 5 of the GAA gene. Both parents are heterozygous for c.921A > T, a silent change (p.Ala307 = ), the proband shows a homozygous T pattern. Position 925 is indicated by arrows. The father is heterozygous for c.925G > A; p.(Gly309Arg), a known pathogenic variant, mother has wild type sequence. The proband shows skewed, pseudoheterozygous, patterns in leukocytes and (briefly) cultured fibroblasts, with the highest mutant peak in the fibroblasts

Back to article page