Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
- 1 May 2002
- journal article
- case report
- Published by Elsevier in Gastroenterology
- Vol. 122 (5) , 1295-1302
- https://doi.org/10.1053/gast.2002.32984
Abstract
No abstract availableKeywords
This publication has 34 references indexed in Scilit:
- Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosisGastroenterology, 2000
- Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptorNature, 2000
- Disorders of Iron MetabolismNew England Journal of Medicine, 1999
- A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote☆Gastroenterology, 1999
- Two Novel Missense Mutations of the HFE Gene (I105T and G93R) and Identification of the S65C Mutation in Alabama Hemochromatosis ProbandsBlood Cells, Molecules, and Diseases, 1999
- Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenumProceedings of the National Academy of Sciences, 1999
- Molecular medicine and hemochromatosis: At the crossroadsGastroenterology, 1999
- Crystal Structure of the Hemochromatosis Protein HFE and Characterization of Its Interaction with Transferrin ReceptorCell, 1998
- Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutationsThe Lancet, 1997
- A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosisNature Genetics, 1996