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Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation

6 Nov 2018

Abstract excerpt

BACKGROUND: Although there have been many reports in the genetics of familial hypercholesterolemia (FH) worldwide, studies in regard of Chinese population are lacking. In this multi-center study, we aim to characterize the genetic spectrum of FH in Chinese population, and examine the genotype-phenotype correlations in detail. METHODS: A total of 285 unrelated index cases from China with clinical FH were...

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PMID: 30400955
DOI: 10.1186/s12944-018-0900-8

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