(Q73893187)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12952143%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

HFE gene mutations an Apulian population: allele frequencies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12952143%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

author name string

A Pietrapertosa

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12952143%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

A Vitucci

2

1 reference

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7 November 2019

D Campanale

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12952143%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

A Palma

4

1 reference

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7 November 2019

R Renni

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12952143%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

G Delios

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12952143%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

N Tannoia

7

1 reference

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7 November 2019

publication date

1 January 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12952143%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Epidemiology

7 November 2019

published in

1 reference

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7 November 2019

volume

18

1 reference

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7 November 2019

issue

7

1 reference

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7 November 2019

page(s)

685-689

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12952143%20AND%20SRC:MED&resulttype=core&format=json

HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis

7 November 2019

cites work

1 reference

12 December 2020

Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man.

1 reference

12 December 2020

Global prevalence of putative haemochromatosis mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated

1 reference

12 December 2020

Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca

1 reference

12 December 2020

Prevalence of Hemochromatosis among 11,065 Presumably Healthy Blood Donors

1 reference

12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary hemochromatosis: recent advances in molecular genetics and clinical management.

1 reference

12 December 2020

Molecular genetics and control of iron metabolism in hemochromatosis.

1 reference

12 December 2020

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

1 reference

12 December 2020

Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin.

1 reference

12 December 2020

The genetics of glucose-6-phosphate dehydrogenase deficiency.

1 reference

12 December 2020

Mutation analysis in hereditary hemochromatosis

1 reference

12 December 2020

Haemochromatosis and HLA-H

1 reference

12 December 2020

Molecular medicine and hemochromatosis: at the crossroads

1 reference

12 December 2020

HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors

1 reference

12 December 2020

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

1 reference

12 December 2020

Multicentric origin of hemochromatosis gene (HFE) mutations

1 reference

12 December 2020

S65c frequency in Italian patients with hemochromatosis, porphyria cutanea tarda and chronic viral hepatitis with iron overload

1 reference

12 December 2020

Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Heterogeneity of hemochromatosis in Italy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation analysis of the HLA-H gene in Italian hemochromatosis patients

1 reference

12 December 2020

Putting a hold on "HLA-H'. The WHO Nomenclature Committee for Factors of the HLA System

1 reference

12 December 2020

The S65C mutation in Spain. Implications for iron overload screening.

1 reference

12 December 2020