Association of an exon 3 mutation (Trp66 → Gly) of the LDL receptor with variable expression of familial hypercholesterolemia in a French Canadian family

Biochemical and Molecular Medicine

Volumn 60, Issue 1, 1997, Pages 59-69

  Levy, Emile ^a   Minnich, Anne ^b   Lussier Cacan, Suzanne ^b   Thibault, Louise ^a   Giroux, Louise Marie ^b   Davignon, Jean ^b   Lambert, Marie ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; HIGH DENSITY LIPOPROTEIN; INTERMEDIATE DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; VERY LOW DENSITY LIPOPROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; DISEASE SEVERITY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY STUDY; FATHER; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; LIPID COMPOSITION; MALE; MOTHER; PHENOTYPE; PROTEIN ANALYSIS;

EID: 0031080422     PISSN: 10773150     EISSN: None     Source Type: Journal    
DOI: 10.1006/bmme.1996.2549     Document Type: Article

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