Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction

Journal of Lipid Research

Volumn 39, Issue 5, 1998, Pages 1101-1105

  Cantafora, Alfredo ^a   Blotta, Ida ^a   Mercuri, Elisabetta ^a   Calandra, Sebastiano ^b   Bertolini, Stefano ^c  

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

Author keywords

Allele specific primers; Polymerase chain reaction amplification of specific alleles

Indexed keywords

ALLELE; ARTICLE; DNA DETERMINATION; FAMILIAL HYPERCHOLESTEROLEMIA; GENE AMPLIFICATION; GENE EXPRESSION; HUMAN; HUMAN CELL; ITALY; LIPOPROTEIN BLOOD LEVEL; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING;

ALLELES; ELECTROPHORESIS, POLYACRYLAMIDE GEL; GENETIC SCREENING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; ITALY; POINT MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, LDL;

EID: 0031923607     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

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