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Article

Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.

Gene - 1 May 2012

Xiong Hui, Higaki Katsumi, Wei Cui-Jie, Bao Xin-Hua, Zhang Yue-Hua, Fu Na, Qin Jiong, Adachi Kaori, Kumura Yumiko, Ninomiya Haruaki, Nanba Eiji, Wu Xi-Ru

Abstract excerpt

UNLABELLED: Niemann-Pick disease type C (NP-C), caused by mutations of either NPC1 or NPC2 gene, is an inherited lysosomal lipid storage disorder that is difficult to be diagnosed and treated. NP-C is rarely reported in China and so far very few literatures are available for Chinese clinical workers. To better characterize this disease in China and improve genetic counseling, mutational analyses of NPC1 gene were...

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Source

Identifiers

PMID: 22326530
DOI: 10.1016/j.gene.2012.01.026

Genes

NPC1
NPC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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