(Q77908510)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11943417%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

title

Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11943417%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference

1 reference

Antonello Pietrangelo

3

1 reference

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9 December 2019

Nathan V Subramaniam

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11943417%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

author name string

Daniel F Wallace

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11943417%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Ann P Walker

2

1 reference

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9 December 2019

Michael Clare

4

1 reference

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9 December 2019

Adrian B Bomford

5

1 reference

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9 December 2019

Jeannette L Dixon

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11943417%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Lawrie W Powell

7

1 reference

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9 December 2019

James S Dooley

9

1 reference

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9 December 2019

publication date

1 April 2002

1 reference

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9 December 2019

published in

Journal of Hepatology

1 reference

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9 December 2019

volume

36

1 reference

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9 December 2019

issue

4

1 reference

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9 December 2019

page(s)

474-479

1 reference

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

9 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

Uncommon mutations and polymorphisms in the hemochromatosis gene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-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/10.1016%2FS0168-8278%2801%2900304-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/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

Commentary on HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors by Naveen Arya, Subrata Chakrabrati, Robert A. Hegele, Paul C. Adams.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-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/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

Polymorphisms in the HFE gene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

Identification of homozygous hemochromatosis subjects by measurement of hepatic iron index

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

Diagnosis and management of hemochromatosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

The effects of wild-type and mutant HFE expression upon cellular iron uptake in transfected human embryonic kidney cells

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

Juvenile hemochromatosis locus maps to chromosome 1q.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2801%2900304-X

7 January 2021

10.1016/S0168-8278(01)00304-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11943417%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference