Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann –Pick disease type A: a case report

ConclusionsIn conclusion, this is the first report about a heterozygote frameshift p.Ser192AlafsX65 in a Palestinian patient with Niemann –Pick disease type A, emphasizing the importance of deep sequencing in genetic diagnosis of this rare inherited disease. (Source: Journal of Medical Case Reports)

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