Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia

Genetic Testing

Volumn 7, Issue 1, 2003, Pages 77-79

  Van De Kerkhof, Laura ^a   Van Eijk, Silvia J ^a   Defesche, Joep C ^a   Dos Santos, José Ernesto ^b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; GENOMIC DNA; LOW DENSITY LIPOPROTEIN RECEPTOR; SERINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BRAZIL; CASE REPORT; DNA DETERMINATION; DNA EXTRACTION; DNA SEQUENCE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE IDENTIFICATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HOMOZYGOTE; HUMAN; INHERITANCE; ITALY; LEBANON; LINKAGE ANALYSIS; MALE; MUTATIONAL ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

ADULT; BRAZIL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MUTATION; PEDIGREE; RECEPTORS, LDL;

EID: 0037357676     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065703321560994     Document Type: Article

References (10)

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