(Q73111181)

English

Absence of overt iron overload in two individuals compound heterozygotes for a 22 base pair deletion of exon 2 and the C282Y missense mutation of the HFE gene

scientific article published on 01 February 2003

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12630967%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Absence of overt iron overload in two individuals compound heterozygotes for a 22 base pair deletion of exon 2 and the C282Y missense mutation of the HFE gene (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12630967%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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author name string

S M Kinkely

1

1 reference

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1 November 2019

B D Brown

2

1 reference

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1 November 2019

A T Lyng

3

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1 November 2019

W K Harrison

4

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1 November 2019

G N Schep

5

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1 November 2019

A C Goddard-Hill

6

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1 November 2019

M E Aubrey

7

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1 November 2019

D Lillicrap

8

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1 November 2019

S A M Taylor

9

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1 November 2019

publication date

1 February 2003

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1 November 2019

Clinical Genetics

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1 November 2019

63

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1 November 2019

2

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1 November 2019

163-165

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1 November 2019

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00028.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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.1399-0004.2003.00028.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00028.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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.1399-0004.2003.00028.X

7 January 2021

based on heuristic

inferred from DOI database lookup

The structure and function of HFE

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00028.X

7 January 2021

based on heuristic

inferred from DOI database lookup

A primer for predicting risk of disease in HFE-linked hemochromatosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00028.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00028.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00028.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1034/J.1399-0004.2003.00028.X

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12630967%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12630967%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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