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[Clinical features and gene mutation analysis of patients with Niemann-Pick disease type C].

Zhonghua yi xue za zhi - 23 Jan 2018

Ren S C, Tian Z X, Deng Y X, Wang Y J, Wu X J, Zhang Y Z, Gao B Q

Abstract excerpt

Objective: To analyze the clinical manifestations, therapeutic efficacy, prognosis and characteristics of NPC1 mutation in Chinese patients with Niemann-Pick disease type C(NPC). Methods: Ten unrelated Chinese NPC patients were diagnosed by NPC1 mutation analysis from July 2013 to February 2017 in Beijing Tian Tan Hospital of Capital Medical University. Clinical data of 10 cases were analyzed retrospectively...

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Identifiers

PMID: 29397615
DOI: 10.3760/cma.j.issn.0376-2491.2018.04.009

Genes

NPC1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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