Associated Papers
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.
Du Z et al.
Iscience, 2022
36325061 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf
Genetic analysis in a compound heterozygote family with familial hypercholesterolemia.
Wang F et al.
Molecular Medicine Reports, 2018
The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.
Jiang L et al.
Scientific Reports, 2016
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Jiang L et al.
Scientific Reports, 2015
Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia.
Wu WF et al.
Plos One, 2014
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