A common intron 3 mutation (IVS3 -48c→g) leads to misdiagnosis of the c.845G→A (C282Y) HFE gene mutation

Blood Cells, Molecules, and Diseases

Volumn 26, Issue 3, 2000, Pages 229-233

  Beutler, Ernest ^a   Gelbart, Terri ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

Diagnosis; Ferritin; Hemochromatosis; Splicing; Transferrin saturation

Indexed keywords

ENDONUCLEASE; FERRITIN; IRON; TRANSFERRIN;

ALLELE; ARTICLE; DIAGNOSTIC ERROR; DNA SEQUENCE; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRON; PRIORITY JOURNAL;

STAPHYLOCOCCUS PHAGE 187;

EID: 0033817852     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2000.0300     Document Type: Article

References (10)

1. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
2. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis
3. An HFE intronic variant promotes misdiagnosis of hereditary hemochromatosis
4. Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis
5. Commentary on significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis
6. Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results
7. PCR conditions for HFE C282Y: Lack of effect of 5569G/A polymorphism with 55°C annealing
8. Hemochromatosis population screening: Laboratory methods
9. Genotyping with the polymerase chain reaction
10. Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion