Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations

Journal of Inherited Metabolic Disease

Volumn 30, Issue 2, 2007, Pages 239-247

  Widhalm, Kurt ^a   Dirisamer, A ^a   Lindemayr, A ^a   Kostner, G ^b  

^a UNIVERSITY OF VIENNA   (Austria)

^b UNIVERSITY OF GRAZ   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B100; CHOLESTEROL; DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL;

ADOLESCENT; ADULT; AGE; AMINO ACID SUBSTITUTION; ARTICLE; ATHEROSCLEROSIS; AUSTRIA; CLINICAL EXAMINATION; CONTROLLED STUDY; DEATH; DENATURING GRADIENT GEL ELECTROPHORESIS; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DNA DETERMINATION; EARLY DIAGNOSIS; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; GENERAL HOSPITAL; GENETIC ANALYSIS; HEALTH PROGRAM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; LIPID BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; OUTPATIENT DEPARTMENT; PROTEIN DEFECT; RELATIVE; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; SEX DIFFERENCE;

ADOLESCENT; ADULT; APOLIPOPROTEIN B-100; ATHEROSCLEROSIS; CHILD; CHILD, PRESCHOOL; CHOLESTEROL, HDL; CHOLESTEROL, LDL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; HOMOZYGOTE; HUMANS; HYPERCHOLESTEROLEMIA; LIPIDS; MALE; MIDDLE AGED; MUTATION; RECEPTORS, LDL; TRIGLYCERIDES;

EID: 33947651099     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0563-5     Document Type: Article

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