Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: Mutational analysis and biochemical studies

Human Mutation

Volumn 9, Issue 6, 1997, Pages 555-562

  Assouline, Linda ^a   Leitersdorf, Eran ^a,b   Lambert, Marie ^a   Reshef, Ayeleth ^b   Feoli Fonseca, Juan C ^a   Levy, Emile ^a,b  

^a UNIVERSITY OF MONTREAL   (Canada)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Atherosclerosis; Children; Familial hypercholesterolemia; Low density lipoprotein receptor; Mutation; single strand conformation polymorphism

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CANADA; CHILD; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; PEDIATRICS; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030912456     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:6<555::AID-HUMU9>3.0.CO;2-0     Document Type: Article

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