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Article

Mutation analysis of feline Niemann-Pick C1 disease.

Molecular genetics and metabolism - 1 Jun 2003

Somers Kyra L, Royals Michael A, Carstea Eugene D, Rafi Mohammad A, Wenger David A, Thrall Mary Anna

Abstract excerpt

Niemann-Pick C (NPC) disease is an autosomal recessive neurovisceral lysosomal storage disorder that results in defective intracellular transport of cholesterol. The major form of human NPC (NPC1) has been mapped to chromosome 18, the NPC1 gene (NPC1) has been sequenced and several mutations have been identified in NPC1 patients. A feline model of NPC has been characterized and is phenotypically, morphologically,...

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Source

Identifiers

PMID: 12809639
DOI: 10.1016/s1096-7192(03)00074-x

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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