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Article

Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.

Molecular genetics and metabolism - 1 Jan 2000

Alavi Afagh, Nafissi Shahriar, Shamshiri Hosein, Nejad Maryam Malakooti, Elahi Elahe

Abstract excerpt

We report identification of a homozygous mutation in NPC2 in two Iranian siblings with a neurologic dysfunction whose disease had not been diagnosed prior to our genetic analysis. The mutation was identified by exome sequencing. The finding resulted in diagnosis of Niemann-Pick disease type C (NPC) in the siblings, and initiation of treatment with Miglustat. The clinical features of the patients are presented. It...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23791309
DOI: 10.1016/j.ymgme.2013.05.019

Genes

NPC2
NPC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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