Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

Human Genetics

Volumn 111, Issue 6, 2002, Pages 501-510

  Amsellem, Sabine ^a   Briffaut, Dorothée ^a   Carrié, Alain ^b   Rabés, Jean Pierre ^c   Girardet, Jean Philippe ^d   Fredenrich, Alexandre ^e   Moulin, Philippe ^f   Krempf, Michel ^g   Reznik, Yves ^h   Vialettes, Bernard ⁱ   De Gennes, Jean Luc ^b   Brukert, Eric ^b   Benlian, Pascale ^a  

^a HÔPITAL SAINT ANTOINE   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c CHU Ambroise Pare   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e PASTEUR HOSPITAL   (France)

^f Antiquaille Hospital   (France)

^g HÔTEL DIEU   (France)

^h CHU CÔTE DE NACRE   (France)

ⁱ HÔPITAL SAINTE MARGUERITE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ALLELE; ALU SEQUENCE; ARTICLE; BIOINFORMATICS; CELL JUNCTION; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SOUTHERN BLOTTING;

BASE SEQUENCE; DNA PRIMERS; EXONS; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INTRONS; MUTATION; RECEPTORS, LDL; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 0036934013     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0813-4     Document Type: Article

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