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Article

[New mutation in a young woman diagnosed with Niemann-Pick disease type C].

Medicina clinica - 3 Jun 2016

Lario Ana, de Miguel Carlos, Ojeda Emilio, Gil Santiago, Coll María J, Alfonso Pilar

Abstract excerpt

BACKGROUND AND OBJETIVE: To describe a new molecular variant of Niemann-Pick disease type C (NPC) in a 27 year-old patient with splenomegaly and abolition of osteotendinous reflexes. MATERIAL AND METHODS: NPC1 is the main gene with described mutation in NPC disease. Here we report a case with a new mutation, p.N916S, not described before in a patient diagnosed with NPC. RESULTS: p.N916S was described as a cause...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27016452
DOI: 10.1016/j.medcli.2016.01.031

Genes

NPC1

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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