Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.Q127H
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HFE

NM_000410.4:p.Q127H

Associated Papers

HFE and Non-HFE Hereditary Hemochromatosis Based on Screening of 854 Individuals: 12 Years of an Iranian Experience.

Zarifian Yeganeh R et al.

Genetic Testing and Molecular Biomarkers, 2024

HFE gene polymorphism defined by sequence-based typing of the Brazilian population and a standardized nomenclature for HFE allele sequences.

Campos WN et al.

Hla, 2017

HFE gene mutation is a risk factor for tissue iron accumulation in hemodialysis patients.

Turkmen E et al.

Hemodialysis International. International Symposium on Home Hemodialysis, 2017

Analysis of HFE mutations and non-HFE gene mutations (TFR2 and SLC40A1) in patients with phenotypic hemochromatosis from the Basque Country.

Castiella A et al.

International Journal of Laboratory Hematology, 2016

HFE gene: Structure, function, mutations, and associated iron abnormalities.

Barton JC et al.

Gene, 2015

Eighty percent of French sport winners in Olympic, World and Europeans competitions have mutations in the hemochromatosis HFE gene.

Hermine O et al.

Biochimie, 2015

HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis.

Sangiuolo F et al.

The European Respiratory Journal, 2015

A novel homozygous stop-codon mutation in human HFE responsible for nonsense-mediated mRNA decay.

Padula MC et al.

Blood Cells, Molecules & Diseases, 2014

Molecular basis of HFE-hemochromatosis.

Vujić M

Frontiers in Pharmacology, 2014

The effect of HFE polymorphisms on cardiac iron overload in patients with beta-thalassemia major.

Turedi A et al.

Pediatric Hematology and Oncology, 2013

Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.

Zamani F et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2012

Should we screen for hereditary hemochromatosis in healthy Lebanese: a pilot study.

Mahfouz RA et al.

Molecular Biology Reports, 2012

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

Santos PCJL et al.

International Journal of Molecular Sciences, 2012

The use of a reverse hybridization strip assay for the study of hemochromatosis-associated gene mutations in Lebanon.

Daher RT et al.

Genetic Testing and Molecular Biomarkers, 2011

Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis.

Chandrasekharan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.

Andreani M et al.

Haematologica, 2009

Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.

Bittencourt PL et al.

Clinics (sao Paulo, Brazil), 2009

The HFE gene heterozygosis H63D: a cofactor for liver damage in patients with steatohepatitis? Epidemiological and clinical considerations.

Neri S et al.

Internal Medicine Journal, 2008

Clinical perspectives on hereditary hemochromatosis.

Ayonrinde OT et al.

Critical Reviews in Clinical Laboratory Sciences, 2008

New HJV mutation in a patient with hyperferritinemia and H63D homozygosity for the HFE gene.

de Diego C et al.

International Journal of Hematology, 2007

H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?

de Diego C et al.

European Journal of Haematology, 2007

[Molecular genetic diagnostics and screening of hereditary hemochromatosis].

Zlocha J et al.

Vnitrni Lekarstvi, 2006

Analysis of HFE and TFR2 gene mutations in patients with acute leukemia.

Veneri D et al.

Leukemia Research, 2005

[Molecular basis in hereditary haemochromatosis].

Cadet E et al.

La Revue De Medecine Interne, 2005

Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer.

Abraham BK et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

Iron overload in kidney transplants: prospective analysis of biochemical and genetic markers.

Lorenz M et al.

Kidney International, 2005

Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation.

Mura C et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2004

Pathogenesis of hereditary hemochromatosis.

Fleming RE et al.

Clinics in Liver Disease, 2004

HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis.

Majore S et al.

Human Mutation, 2004

Of mice and men: genetic determinants of iron status.

McGregor J et al.

The Proceedings of the Nutrition Society, 2004

Iron overload in acute myeloid leukemia patients is not related to HFE and TFR2 gene mutations.

Veneri D et al.

Haematologica, 2003

Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload.

De Gobbi M et al.

Haematologica, 2003

HFE gene mutations an Apulian population: allele frequencies.

Pietrapertosa A et al.

European Journal of Epidemiology, 2003

Pathogenesis of hereditary hemochromatosis: genetics and beyond.

Britton RS et al.

Seminars in Gastrointestinal Disease, 2002

Association between the MHC class I gene HFE polymorphisms and longevity: a study in Sicilian population.

Lio D et al.

Genes and Immunity, 2002

A previously undescribed nonsense mutation of the HFE gene.

Beutler E et al.

Clinical Genetics, 2002

A very rare association of three mutations of the HFE gene for hemochromatosis.

Menardi G et al.

Genetic Testing, 2002

Genetic testing for HFE gene mutations related to hereditary hemochromatosis.

Unknown Author

Tecnologica. Map Supplement. Blue Cross and Blue Shield Association. Medical Advisory Panel, 2001

Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC.

Le Gac G et al.

Clinical Chemistry, 2001

A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations.

Oberkanins C et al.

Genetic Testing, 2000

Uncommon mutations and polymorphisms in the hemochromatosis gene.

Pointon JJ et al.

Genetic Testing, 2000

Hereditary hemochromatosis in Spain.

Sánchez M et al.

Genetic Testing, 2000

Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

de Villiers JN et al.

Human Molecular Genetics, 1999

[Hereditary hemochromatosis: biochemical and genetic diagnosis].

Quintero E

Gastroenterologia Y Hepatologia, 1999

Hematologically important mutations: iron storage diseases.

Beutler L et al.

Blood Cells, Molecules & Diseases, 0

[Heterozygosis H63D in patients with steatohepatitis and chronic hepatitis C].

Pulvirenti D et al.

La Clinica Terapeutica, 0

Iron storage disease in red deer (Cervus elaphus elaphus) is not associated with mutations in the HFE gene.

Olias P et al.

Journal of Comparative Pathology, 0

Hfe mutations and iron overload in patients with alcoholic liver disease.

Costa-Matos L et al.

Arquivos De Gastroenterologia, 0

FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family.

Ferro E et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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