Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene

Human Genetics

Volumn 98, Issue 4, 1996, Pages 476-478

  Kotze, Maritha J ^a   Thiart, Rochelle ^a   Loubser, Odell ^a   De Villiers, J Nico P ^a   Santos, Maria ^b   Vargas, Marco A ^c   Peeters, Armand V ^a  

^a UNIVERSITY OF STELLENBOSCH   (South Africa)

^b UNIVERSIDAD DE COSTA RICA   (Costa Rica)

^c PROYECTO EPIDEMIOLÓGICO GUANACASTE   (Costa Rica)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; MUTANT PROTEIN;

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MUTAGENESIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHOLESTEROL; CHOLESTEROL, HDL; CODON; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA TRANSPOSABLE ELEMENTS; EPIDERMAL GROWTH FACTOR; EXONS; FEMALE; FRAMESHIFT MUTATION; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; RECEPTORS, LDL; TERMINATOR REGIONS (GENETICS); TRIGLYCERIDES;

EID: 0029837815     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050242     Document Type: Article

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