Homozygous familial hypercholesterolemia: The c.1055G>A mutation in the LDLR gene and clinical heterogeneity

Journal of Clinical Lipidology

Volumn 8, Issue 5, 2014, Pages 525-527

  Magaña Torres, María Teresa ^a   Mora Hernández, Samantha ^a   Vázquez Cárdenas, Norma Alejandra ^b   González Jaimes, Armando ^c  

^a INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^b UNIVERSIDAD AUTÓNOMA DE GUADALAJARA   (Mexico)

^c Genzyme Mexico   (Mexico)

Author keywords

c.1055G>A mutation; Homozygous familial hypercholesterolemia; Incomplete penetrance; LDLR gene

Indexed keywords

ATORVASTATIN; EZETIMIBE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CAROTID ARTERY OBSTRUCTION; CASE REPORT; CHILD; CHOLESTEROL BLOOD LEVEL; DNA POLYMORPHISM; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MALE; MEXICAN; MEXICO; PENETRANCE; SCHOOL CHILD; SKIN DEFECT; XANTHOMA; ADULT; FEMALE; GENETIC POLYMORPHISM; GENETICS; HOMOZYGOTE; HYPERLIPOPROTEINEMIA TYPE II; METABOLISM; MIDDLE AGED; MUTATION; PEDIGREE; PRESCHOOL CHILD;

ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RECEPTORS, LDL;

EID: 84908897549     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2014.05.002     Document Type: Article

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