An HFE intronic variant promotes misdiagnosis of hereditary hemochromatosis [5]

American Journal of Human Genetics

Volumn 65, Issue 3, 1999, Pages 924-926

  Somerville, M J ^a   Sprysak, K A ^a   Hicks, M ^a   Elyas, B G ^a   Vicen Wyhony, L ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; IRON; TRANSFERRIN;

ADULT; AGED; CLINICAL ARTICLE; GENETIC SCREENING; GENETIC VARIABILITY; HEMOCHROMATOSIS; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; LETTER; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0033365536     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302550     Document Type: Letter

References (5)

1. D Baty A Terron Kwiatkowski D Mechan A Harris MJ Pippard D Goudie Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis J Clin Pathol 51 1998 73 74
2. ZJ Bulaj LM Griffen LB Jorde CQ Edwards JP Kushner Clinical and biochemical abnormalities in people heterozygous for hemochromatosis N Engl J Med 335 1996 1799 1805
3. JN Feder A Gnirke W Thomas Z Tsuchihashi DA Ruddy A Basava F Dormishian A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis Nat Genet 13 1996 399 408
4. EC Jazwinska LM Cullen F Busfield WR Pyper SI Webb LW Powell CP Morris Haemochromatosis and HLA-H Nat Genet 14 1996 249 251
5. AT Merryweather-Clarke JJ Pointon JD Shearman KJ Robson Global prevalence of putative haemochromatosis mutations J Med Genet 34 1997 275 278