TFR2 Y250x mutation in Italy [2]

British Journal of Haematology

Volumn 114, Issue 1, 2001, Pages 243-244

  De Gobbi, Marco ^a   Barilaro, Maria Rosa ^b   Garozzo, Giovanni ^b   Sbaiz, Luca ^c   Alberti, Federica ^a   Camaschella, Clara ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b CIVILE M P AREZZO HOSPITAL   (Italy)

^c REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

Author keywords

Haemochromatosis; HFE; Mutation analysis; Prevalence; TFR2

Indexed keywords

FERRITIN; GENE PRODUCT; HFE PROTEIN; TRANSFERRIN; TRANSFERRIN RECEPTOR; UNCLASSIFIED DRUG;

CONTROLLED STUDY; FEMALE; GENE MUTATION; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IRON OVERLOAD; ITALY; LETTER; MAJOR CLINICAL STUDY; MALE; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; FEMALE; GENE FREQUENCY; HEMOCHROMATOSIS; HUMANS; INFANT, NEWBORN; ITALY; MALE; MUTATION; RECEPTORS, TRANSFERRIN;

EID: 0034935154     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.02873-5.x     Document Type: Letter

References (6)

1. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
2. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis
3. A candidate gene for hemochromatosis: Frequency of the C282Y and H63D mutations
4. Heterogeneity of hemochromatosis in Italy
5. A pilot C282Y hemochromatosis screening in Italian newborns by Taqman™ technology
6. The juvenile hemochromatosis locus maps to chromosome 1q