Genetic and laboratory diagnostic approach in Niemann Pick disease type C.

Abstract excerpt

Niemann Pick disease type C (NP-C) is a rare autosomal recessive disorder that results from mutations in either the NPC1 or the NPC2 gene. The estimated incidence of NP-C is 1 in 120,000 live births, although the frequency of cases is higher in some isolated populations. More than 350 different NPC1 and NPC2 gene mutations have been reported in patients with confirmed diagnoses. Approximately 95 % of patients...

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