Presence of the hemochromatosis S65C mutation leads to failure of amplification in a multiplex C282Y/H63D PCR [2]

Clinical Chemistry

Volumn 53, Issue 9, 2007, Pages 1715-

  Koeken, Ankie ^a   De Baar, Ellen ^a   Schrauwen, Lianne ^a   Cobbaert, Christa ^a  

^a AMPHIA HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BBRPI ENZYME; RESTRICTION ENDONUCLEASE; UNCLASSIFIED DRUG;

ALLELE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME ANALYSIS; DIAGNOSTIC PROCEDURE; DNA SEQUENCE; GENE AMPLIFICATION; GENE MUTATION; GENETIC RISK; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; LETTER; METHYLATION; POLYMERASE CHAIN REACTION; RESTRICTION SITE; SITE DIRECTED MUTAGENESIS;

HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MEMBRANE PROTEINS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTAGENESIS, SITE-DIRECTED; MUTATION; POLYMERASE CHAIN REACTION;

EID: 34548308666     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2007.092072     Document Type: Letter

References (4)

1. Stott MK, Fellows AP, Upton JD, Burt MJ, George PM. Simple multiplex for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations. Clin Chem 1999;45:426-8.
2. Koeken A, Cobbaert C, Quint W, Doorn van U. Genotyping of hemochromatosis-associated mutations in the HFE gene by PCR-RFLP and a novel reverse hybridization method. Clin Chem Lab Med 2002;40:122-5.
3. Starczynski J, Hooper L, Ali N, Hill M, Fegan C, Pratt G. Genetic screening for hemochromatosis: a cautionary tale [Letter]. Clin Chem 2005;51:673.
4. Mura C, Nousbaum JB, Verger P, Moalic MT, Raguenes O, Mercier AY, et al. Phenotype-genotype correlation in haemochromatosis subjects. Hum Genet 1997;101:271-6.