(Q46533987)

English

Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R.

scientific article published in January 2006

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scholarly article

1 reference

Europe PubMed Central

22 December 2017

http://europepmc.org/abstract/MED/16424658

Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R. (English)

1 reference

Europe PubMed Central

22 December 2017

http://europepmc.org/abstract/MED/16424658

1 reference

based on heuristic

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1 reference

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author name string

Pauline L Lee

1

1 reference

Europe PubMed Central

22 December 2017

http://europepmc.org/abstract/MED/16424658

James C Barton

2

1 reference

Europe PubMed Central

22 December 2017

http://europepmc.org/abstract/MED/16424658

publication date

1 January 2006

1 reference

Europe PubMed Central

22 December 2017

http://europepmc.org/abstract/MED/16424658

Acta Haematologica

1 reference

Europe PubMed Central

22 December 2017

http://europepmc.org/abstract/MED/16424658

115

1 reference

Europe PubMed Central

22 December 2017

http://europepmc.org/abstract/MED/16424658

1-2

1 reference

Europe PubMed Central

22 December 2017

http://europepmc.org/abstract/MED/16424658

102-105

1 reference

Europe PubMed Central

22 December 2017

http://europepmc.org/abstract/MED/16424658

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

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

Mutation analysis in hereditary hemochromatosis.

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

Type 3 hemochromatosis and beta-thalassemia trait

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

Prevalence of HFE mutations in upper Northern Italy: study of 1132 unrelated blood donors.

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

Hemochromatosis due to mutations in transferrin receptor 2.

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

Biochemical expression of heterozygous hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1159%2F000089474

21 January 2018

Identifiers

10.1159/000089474

1 reference

Europe PubMed Central

22 December 2017

http://europepmc.org/abstract/MED/16424658

1 reference

Europe PubMed Central

22 December 2017

http://europepmc.org/abstract/MED/16424658

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