(Q73001718)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11005145%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca (English)

1 reference

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31 October 2019

2

1 reference

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31 October 2019

José A. Castro

6

1 reference

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31 October 2019

author name string

P Guix

1

1 reference

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31 October 2019

M Parera

3

1 reference

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31 October 2019

C Tomás

4

1 reference

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31 October 2019

J Muncunill

5

1 reference

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31 October 2019

J Rossell

7

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31 October 2019

P Vaquer

8

1 reference

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31 October 2019

M M Ramon

9

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31 October 2019

A Obrador

10

1 reference

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31 October 2019

publication date

1 August 2000

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31 October 2019

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31 October 2019

volume

58

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31 October 2019

issue

2

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31 October 2019

page(s)

123-128

1 reference

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Hereditary haemochromatosis mutation frequencies in the general population

31 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Global prevalence of putative haemochromatosis mutations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Determination of gene frequencies for two common haemochromatosis mutations in the Danish population by a novel polymerase chain reaction with sequence-specific primers.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

The significance of haemochromatosis gene mutations in the general population: implications for screening

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

HFEmutations in patients with hereditary haemochromatosis in Sweden

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Multicentric origin of hemochromatosis gene (HFE) mutations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Haemochromatosis and HLA-H.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Haemochromatosis and HLA-H

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Heterogeneity of hemochromatosis in Italy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

An HFE intronic variant promotes misdiagnosis of hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

Update on hereditary hemochromatosis and the HFE gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580206.X

7 January 2021

10.1034/J.1399-0004.2000.580206.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11005145%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference