Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family

Molecular and Cellular Probes

Volumn 11, Issue 6, 1997, Pages 457-458

  Thiart, Rochelle ^a,c   Loubser, Odell ^a,d   De Villiers, J Nico P ^a   Santos, Maria ^b   Kotze, Maritha J ^a  

^a UNIVERSITY OF STELLENBOSCH   (South Africa)

^b UNIVERSIDAD DE COSTA RICA   (Costa Rica)

^c STELLENBOSCH UNIVERSITY   (South Africa)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Familial hypercholesterolemia; Low density lipoprotein receptor; Mutation

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; COSTA RICA; FAMILIAL HYPERCHOLESTEROLEMIA; HUMAN; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

EID: 0031418996     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.1997.0134     Document Type: Article

References (7)

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