A rare case of a patient heterozygous for the hemochromatosis mutation C282Y and homozygous for H63D

Blood Cells, Molecules, and Diseases

Volumn 27, Issue 5, 2001, Pages 892-893

  Lucotte, Gérard ^a   Champenois, Thierry ^b   Sémonin, Olivier ^c  

^a Center of Molecular Neurogenetics   (France)

^b LCL   (France)

^c ESGS Laboratory   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFERRIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; FEMALE; FRANCE; GENE MUTATION; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOSITY; HFE GENE; HOMOZYGOSITY; HUMAN; MAJOR GENE; PRIORITY JOURNAL; DNA PROBE; GENETICS; HETEROZYGOTE; HOMOZYGOTE; METABOLISM; POINT MUTATION;

ADULT; CASE REPORT; DNA PROBES; FEMALE; FRANCE; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; POINT MUTATION; TRANSFERRIN;

EID: 0035210635     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2001.0451     Document Type: Article

References (8)

1. A novel MHC class-I like gene is mutated in patients with hereditary hemochromatosis
2. Genetic irony beyond hemochromatosis: Clinical effects for HLA-H mutations
3. The significance of the 187G (H63D) mutation in hemochromatosis
4. Detection of an unusual combination of mutations in the HFE gene for hemochromatosis
5. Hemochromatosis mutations C282Y and H63D in "cis" phase
6. Génotypage de la mutation du gène HFE de I'hémochromatose dans une série de plus d'un millier de malades ayant une surcharge sérique en fer
7. Hemochromatosis and HLA-H
8. Mutation analysis of the HLA-H gene in French hemochromatosis patients, and genetic counseling in families