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Article

Characterization of the unique Chinese W483X mutation in the low-density lipoprotein-receptor gene in young patients with homozygous familial hypercholesterolemia.

Journal of clinical lipidology - 1 Jan 2000

Jiang Long, Sun Li-Yuan, Pan Xiao-Dong, Chen Pan-Pan, Tang Ling, Wang Wei, Zhao Li-Min, Yang Shi-Wei, Wang Lu-Ya

Abstract excerpt

BACKGROUND: Recent guidelines suggest that more attention should be focused on children with homozygous familial hypercholesterolemia (HoFH). China may have 3.8 million potential FH patients, but there are limited data focused on HoFH children. OBJECTIVE: We systematically analyzed the characteristic phenotype and the relationship between the genotype and the phenotype in HoFH children with the unique Chinese...

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Identifiers

PMID: 27206941
DOI: 10.1016/j.jacl.2015.12.016

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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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