Fig. 3From: Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case reportPartial DNA sequence alignment of exon 1 showing (T>C) mutation in the patient and his mother (a) and its corresponding amino residue alignment showing p.Val36Ala (b)Back to article page