Molecular diagnosis of hereditary hemochromatosis: Application of a newly-developed reverse-hybridization assay in the South African population

Clinical Genetics

Volumn 65, Issue 4, 2004, Pages 317-321

  Kotze, Maritha J ^a,f   de Villiers, J N P ^a   Bouwens, C S H ^b   Warnich, L ^c   Zaahl, M G ^c   van der Merwe, S ^d   Oberkanins, C ^e  

^a Christiaan Barnard Memorial Hospital   (South Africa)

^b STELLENBOSCH UNIVERSITY   (South Africa)

^c STELLENBOSCH UNIVERSITY   (South Africa)

^d UNIVERSITY OF PRETORIA   (South Africa)

^e VIENNALAB DIAGNOSTICS GMBH   (Austria)

^f NONE   (South Africa)

Author keywords

Assay; Diagnosis; Hereditary hemochromatosis; Iron overload; Mutation

Indexed keywords

ANALYTIC METHOD; ARTICLE; CAUCASIAN; CHROMOSOME MUTATION; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; GENE IDENTIFICATION; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; HYBRIDIZATION; MAJOR CLINICAL STUDY; POPULATION RESEARCH; PRIORITY JOURNAL; RESTRICTION MAPPING; SOUTH AFRICA; VALIDATION PROCESS;

DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON OVERLOAD; MEMBRANE PROTEINS; MOLECULAR DIAGNOSTIC TECHNIQUES; NUCLEIC ACID HYBRIDIZATION; POINT MUTATION; REAGENT KITS, DIAGNOSTIC; REPRODUCIBILITY OF RESULTS; SOUTH AFRICA;

EID: 1842581844     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00222.x     Document Type: Article

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