Genotype-phenotype analysis of a homozygous familial hypercholesterolemia pedigree

Objective: To analyze the genetic characteristics of a five generations pedigree with homozygous familial hypercholesterolemia (HoFH). Methods: Prospective study. Twenty family members included a proband diagnosed as familial hyperlipidemia at the cardiology Department of Xi'an Children's...

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Publié dans:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 58(2020), 2 vom: 02. Feb., Seite 101-106
Auteur principal: Wang, D Y (Auteur)
Autres auteurs: Zhang, Y M, Che, F Y, Chu, J P, Zhang, L Y, Li, H, Liu, B L, Yao, Z Y, Zhao, Y W
Format: Article en ligne
Langue:Chinese
Publié: 2020
Accès à la collection:Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:Journal Article Genes Hypercholesterolemia Phenotype Cholesterol, LDL LDLR protein, human LDLRAD4 protein, human Lipoproteins, HDL Lipoproteins, LDL Membrane Proteins plus... Receptors, LDL DNA 9007-49-2