Increasing the sensitivity of single-strand conformation polymorphism analysis of the LDLR gene mutations in Brazilian patients with familial hypercholesterolemia

Clinical Chemistry and Laboratory Medicine

Volumn 40, Issue 5, 2002, Pages 441-445

  Salazar, Luis A ^a   Hirata, Mario H ^a   Hirata, Rosario D C ^a  

^a UNIVERSIDAD DE LA FRONTERA   (Chile)

Author keywords

Familial hypercholesterolemia; Genetic polymorphism; LDLR gene; Mutations; Screening; Single strand conformation polymorphism (SSCP)

Indexed keywords

DNA FRAGMENT; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOMATION; BRAZIL; CANCER DIAGNOSIS; CHILD; CONTROLLED STUDY; DNA POLYMORPHISM; ELECTRIC POTENTIAL; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; METHODOLOGY; MUTATIONAL ANALYSIS; PH; PHARMACOGENETICS; PRIORITY JOURNAL; PROMOTER REGION; SENSITIVITY ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; TEMPERATURE; TIME; GENETICS; HYPERLIPOPROTEINEMIA TYPE 2; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SENSITIVITY AND SPECIFICITY; STANDARD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BRAZIL; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; GENETIC SCREENING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, LDL; SENSITIVITY AND SPECIFICITY; TEMPERATURE;

EID: 0036287336     PISSN: 14346621     EISSN: None     Source Type: Journal    
DOI: 10.1515/CCLM.2002.075     Document Type: Article

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