Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia

Atherosclerosis

Volumn 218, Issue 2, 2011, Pages 391-396

  Vaca, Gerardo ^a   Vàzquez, Alejandra ^a   Magaña, Marìa Teresa ^a   Ramìrez, Marìa Lourdes ^a   Dàvalos, Ingrid P ^a   Martìnez, Esperanza ^b   Marìn, Bertha ^b   Carrillo, Gabriela ^b  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA DE OCCIDENTE   (Mexico)

^b HOSPITAL DE ESPECIALIDADES   (Mexico)

Author keywords

APOB gene; Familial hypercholesterolemia; Familial ligand defective apolipoprotein b100; Family genetic cascade screening; LDLR gene; Mexican population; Mutations

Indexed keywords

APOLIPOPROTEIN B; CHOLESTEROL; GENOMIC DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; EARLY DIAGNOSIS; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERCHOLESTEROLEMIA; INTRON; MAJOR CLINICAL STUDY; MALE; MEXICO; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; NUCLEOTIDE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPLICING DEFECT;

ADOLESCENT; ADULT; AGED; ALLELES; ANTICHOLESTEREMIC AGENTS; APOLIPOPROTEINS B; CHOLESTEROL; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MEXICO; MIDDLE AGED; MUTATION; PHENOTYPE; RECEPTORS, LDL; SEQUENCE ANALYSIS, DNA;

EID: 80053224510     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2011.06.006     Document Type: Article

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