Uncommon Mutations and Polymorphisms in the Hemochromatosis Gene

A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis

1996 • 3,682 citations

Long-term survival in patients with hereditary hemochromatosis

1996 • 895 citations

The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding

1998 • 852 citations

Prevalence of Hemochromatosis among 11,065 Presumably Healthy Blood Donors

1988 • 646 citations

Crystal Structure of the Hemochromatosis Protein HFE and Characterization of Its Interaction with Transferrin Receptor

1998 • 635 citations

The Hemochromatosis Founder Mutation in HLA-H Disrupts β2-Microglobulin Interaction and Cell Surface Expression

1997 • 481 citations

Mutation Analysis in Hereditary Hemochromatosis

1996 • 429 citations

Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis.

1976 • 396 citations

HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis

1999 • 395 citations

Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β ₂ -microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

1997 • 388 citations

Idiopathic Hemochromatosis

1977 • 355 citations

Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis

1997 • 342 citations

Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor

2000 • 337 citations

Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

1997 • 312 citations

Long term results of venesection therapy in idiopathic haemochromatosis.

1976 • 247 citations

Juvenile Hemochromatosis Locus Maps to Chromosome 1q

1999 • 238 citations

Co-trafficking of HFE, a Nonclassical Major Histocompatibility Complex Class I Protein, with the Transferrin Receptor Implies a Role in Intracellular Iron Regulation

1998 • 234 citations

A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria

1996 • 214 citations

A simple genetic test identifies 90% of UK patients with haemochromatosis

1997 • 203 citations

A simple genetic test identifies 90% of UK patients with haemochromatosis

1997 • 200 citations

The hemochromatosis protein HFE competes with transferrin for binding to the transferrin receptor 1 1Edited by I. A. Wilson

1999 • 183 citations

Prevalence of haemochromatosis amongst asymptomatic Australians

1990 • 180 citations

Two Novel Missense Mutations of the HFE Gene (I105T and G93R) and Identification of the S65C Mutation in Alabama Hemochromatosis Probands

1999 • 178 citations

Genetic and Clinical Description of Hemochromatosis Probands and Heterozygotes: Evidence That Multiple Genes Linked to the Major Histocompatibility Complex Are Responsible for Hemochromatosis

1997 • 176 citations

Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: Implications for cellular iron homeostasis

1999 • 157 citations

Homogeneous Multiplex Genotyping of Hemochromatosis Mutations with Fluorescent Hybridization Probes

1998 • 156 citations

Multicentric Origin of Hemochromatosis Gene (HFE) Mutations

1999 • 153 citations

Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients

1997 • 144 citations

A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote☆

1999 • 131 citations

A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations

1997 • 118 citations

HFE mutations in patients with hereditary haemochromatosis in Sweden

1998 • 104 citations

Haemochromatosis HFE and genetic complexity

1997 • 96 citations

Spectrum of Mutations in the HFE Gene Implicated in Haemochromatosis and Porphyria

1999 • 88 citations

Juvenile and adult hemochromatosis are distinct genetic disorders.

1998 • 87 citations

Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria

1996 • 86 citations

The Transferrin Receptor Binding Site on HFE, the Class I MHC-related Protein Mutated in Hereditary Hemochromatosis

1999 • 84 citations

Juvenile and Adult Hemochromatosis Are Distinct Genetic Disorders

1997 • 80 citations

Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene.

1995 • 73 citations

Phenotype-genotype correlation in haemochromatosis subjects

1997 • 70 citations

Changing concepts in haemochromatosis

1970 • 57 citations

Hereditary juvenile haemochromatosis: a genetically heterogeneous life- threatening iron-storage disease

1998 • 55 citations

HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis

1998 • 50 citations

Clinical and family studies in genetic hemochromatosis: Microsatellite and HFE studies in five atypical families

1997 • 50 citations

Rapid and simple determination of hereditary haemochromatosis mutations by multiplex PCR–SSCP: detection of a new polymorphic mutation

1999 • 48 citations

Hemochromatosis mutations C282Y and H63D in ‘cis’ phase

2001 • 40 citations

HLA-H and Associated Proteins in Patients with Hemochromatosis

1997 • 37 citations

Polymorphisms in the HFE Gene

1999 • 36 citations

New Diallelic Markers in the HLA Region of Chromosome 6

1997 • 35 citations

Orientation of loci within the human major histocompatibility complex by chromosomal in situ hybridization.

1984 • 35 citations

A rapid automated SSCP multiplex capillary electrophoresis protocol that detects the two common mutations implicated in hereditary hemochromatosis (HH)

1999 • 31 citations

Rapid Genetic Screening for Hemochromatosis Using Automated SSCP-Based Capillary Electrophoresis (SSCP-CE)

1999 • 27 citations

Variation of hemochromatosis prevalence and genotype in national groups

2000 • 26 citations

Haplotype Analysis of the HFE Gene: Implications for the Origins of Hemochromatosis Related Mutations

1999 • 19 citations

Hereditary hemochromatosis: aHpal polymorphism within the HLA-H gene

1997 • 17 citations

Significance of Linkage Disequilibrium between Mutation C282Y and a MseI Polymorphism in Population Screening and DNA Diagnosis of Hemochromatosis

1999 • 14 citations

General sessions

1997 • 5 citations