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NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.

Human mutation - 1 Jan 2002

Bauer Peter, Knoblich Rupert, Bauer Claudia, Finckh Ulrich, Hufen Antje, Kropp Julia, Braun Silja, Kustermann-Kuhn Birgit, Schmidt Dörthe, Harzer Klaus, Rolfs Arndt

Abstract excerpt

Niemann-Pick type C disease (NP-C) is a rare, autosomal recessive lipid storage disorder. At least 96% of all NP-C patients link to NPC1 which encodes for a lysosomally-targeted protein. We describe the complete genomic sequence of 57,052 kb corresponding to the transcribed region of human NPC1 including several exonic and intronic single nucleotide polymorphisms (SNPs). Sequencing of all exons, splice sites, and...

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Source

Identifiers

PMID: 11754101
DOI: 10.1002/humu.10016

Genes

NPC1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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