Multicentric origin of hemochromatosis gene (HFE) mutations (Q28139525)

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J J Pointon

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C A Fisher

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G Perera

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M Arambepola

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D S Arichchi

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S De Silva

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J L Vandwalle

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J P Monti

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J M Old

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A T Merryweather-Clarke

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D J Weatherall

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K J Robson

American Journal of Human Genetics

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language of work or name

English

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publication date

April 1999

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published in

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volume

64

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issue

4

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page(s)

1056-62

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cites work

Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377829

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377829

The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377829

A comprehensive genetic map of the human genome based on 5,264 microsatellites

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377829

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377829

Global prevalence of putative haemochromatosis mutations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377829

Salmonella typhi uses CFTR to enter intestinal epithelial cells.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377829

The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377829

Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377829

Localization of the hemochromatosis gene close to D6S105.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377829

Dinucleotide repeat polymorphism at the D6S105 locus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377829

Mutation analysis in hereditary hemochromatosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377829

Haemochromatosis and HLA-H.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377829

Analysis of beta-globin gene haplotypes in Asian Indians: origin and spread of beta-thalassaemia on the Indian subcontinent

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377829

Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype

2 June 2018

1 reference

12 December 2020

New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105

1 reference

12 December 2020

Long-term survival in patients with hereditary hemochromatosis

1 reference

12 December 2020

Haemochromatosis and HLA-H

1 reference

12 December 2020

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

1 reference

12 December 2020

Rapid diagnosis of the HLA-H gene Cys 282 Tyr mutation in hemochromatosis by polymerase chain reaction--a very rare mutation in the Chinese population

1 reference

12 December 2020

New diallelic markers in the HLA region of chromosome 6

1 reference

12 December 2020

A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium

1 reference

12 December 2020

Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis

1 reference

12 December 2020

Identifiers

DOI

10.1086/302318

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906806

906806

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1 reference

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