Identification and characterization of the first Spanish familial ligand-defective apolipoprotein B homozygote;Identificación y caracterización del primer español con defecto homocigoto familiar de unión de la apolipoproteína B

Medicina Clinica

Volumn 116, Issue 4, 2001, Pages 138-141

  Real, José Tomás ^a   Chaves, Javier Francisco ^b   De Llano, José Javier Martín ^b   Ejarque, Ismael ^a   Civera, Miguel ^a   Ascaso, Juan Francisco ^a   Knecht, Ervin ^b   Armengod, María Eugenia ^b   Carmena, Rafael ^a  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^b CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

Author keywords

Homozygous familial ligand defective apolipoprotein B. R3500q mutation

Indexed keywords

APOLIPOPROTEIN B; APOLIPOPROTEIN B RECEPTOR; APOLIPOPROTEIN B100; LIPOPROTEIN RECEPTOR; LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CASE REPORT; GENETICS; HOMOZYGOTE; HUMAN; HYPERLIPOPROTEINEMIA TYPE 2; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN;

APOLIPOPROTEIN B-100; APOLIPOPROTEINS B; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, LDL; RECEPTORS, LIPOPROTEIN; SPAIN;

EID: 0042827219     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0025-7753(01)71750-2     Document Type: Article

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