Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100

Human Mutation

Volumn 7, Issue 4, 1996, Pages 340-345

  Benlian, Pascale ^a   De Gennes, Jean Luc ^a   Dairou, François ^a   Hermelin, Brigitte ^b   Ginon, Isabelle ^a   Villain, Elizabeth ^c   Lagarde, Jean Pierre ^a   Federspiel, Marie Christine ^a   Bertrand, Véronique ^b   Bernard, Chantal ^b   Bereziat, Gilbert ^b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL SAINT ANTOINE   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Apolipoprotein B; Digenic hypercholesterolemia; Familial defective apolipoprotein B 100; Familial hypercholesterolemia; Low density lipoprotein receptor

Indexed keywords

APOLIPOPROTEIN B100; CHOLESTEROL; DNA; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; ARTICLE; CASE REPORT; CHILD; DNA SEQUENCE; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY STUDY; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

ADULT; APOLIPOPROTEIN B-100; APOLIPOPROTEINS B; BASE SEQUENCE; CHILD; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE;

EID: 19144367177     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:4<340::AID-HUMU8>3.0.CO;2-C     Document Type: Article

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