(Q73979651)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11394651%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy (English)

1 reference

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8 November 2019

1 reference

1

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8 November 2019

Antonello Pietrangelo

9

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8 November 2019

author name string

E Pignatti

2

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8 November 2019

G Montosi

3

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8 November 2019

C Garuti

4

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8 November 2019

M Mariano

5

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8 November 2019

D Campioli

6

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8 November 2019

A Carbonieri

7

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8 November 2019

E Baldini

8

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8 November 2019

publication date

1 April 2001

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8 November 2019

published in

Journal of Hepatology

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8 November 2019

volume

34

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8 November 2019

issue

4

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8 November 2019

page(s)

523-528

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Global prevalence of putative haemochromatosis mutations

8 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

The significance of the 187G (H63D) mutation in hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Heterogeneity of hemochromatosis in Italy

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Towards fully automated genome-wide polymorphism screening

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Celtic origin of the C282Y mutation of hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

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/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Frequency of the C282Y mutation of hemochromatosis in five French populations.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Prevalence of abnormal iron studies in heterozygotes for hereditary hemochromatosis: an analysis of 255 heterozygotes

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Clinical and biochemical abnormalities in people heterozygous for hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Phenotypic expression of HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Phenotype-genotype correlation in haemochromatosis subjects

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

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/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Hemochromatosis in heterozygotes

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease?

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

H63D is an haemochromatosis associated allele

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

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/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Distribution of transferrin saturation in an Australian population: relevance to the early diagnosis of hemochromatosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

A population-based study of the clinical expression of the hemochromatosis gene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

Results of surveys to assess iron status in Europe

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900035-6

7 January 2021

10.1016/S0168-8278(01)00035-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11394651%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference