An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in Familial Hypercholesterolemia

Clinica Chimica Acta

Volumn 406, Issue 1-2, 2009, Pages 75-80

  Rabacchi, Claudio ^a   Wunsch, Alessia ^a   Ghisellini, Margherita ^a   Marino, Marco ^a   Pisciotta, Livia ^b   Bertolini, Stefano ^b   Calandra, Sebastiano ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

Author keywords

Alu sequence recombination; Co segregation analysis; Exon deletion; Homozygous Familial Hypercholesterolemia; LDLR gene

Indexed keywords

APOLIPOPROTEIN; CHOLESTEROL; LIPID; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL;

ADULT; ARTICLE; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INTRON; LIPID BLOOD LEVEL; LIPOPROTEIN BLOOD LEVEL; MALE; PARENT; POINT MUTATION; PRIORITY JOURNAL; PROGENY; TRIACYLGLYCEROL BLOOD LEVEL;

ADULT; BASE SEQUENCE; EXONS; FEMALE; GENOMICS; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INTRONS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PARENTS; PHENOTYPE; POINT MUTATION; RECEPTORS, LDL; SEQUENCE ANALYSIS, DNA;

EID: 67650299748     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2009.05.017     Document Type: Article

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