Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload. (Q30377611)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload (English)

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28 February 2020

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3

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28 February 2020

James C Barton

5

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28 February 2020

Cameron J McDonald

8

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28 February 2020

Lyle C. Gurrin

10

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28 February 2020

Katie Allen

11

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28 February 2020

Gregory J Anderson

15

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28 February 2020

12

Deborah A Nickerson

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28 February 2020

14

Grant A Ramm

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28 February 2020

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Justin B Goh

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28 February 2020

author name string

Christine E McLaren

1

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28 February 2020

Mary J Emond

2

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28 February 2020

Pradyumna D Phatak

4

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28 February 2020

Paul C Adams

6

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28 February 2020

Lawrie W Powell

9

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28 February 2020

Tin Louie

13

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28 February 2020

Gordon D McLaren

16

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28 February 2020

language of work or name

English

0 references

publication date

18 March 2015

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28 February 2020

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28 February 2020

volume

62

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28 February 2020

page(s)

429-439

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28 February 2020

issue

2

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Identification of erythroferrone as an erythroid regulator of iron metabolism

28 February 2020

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20 June 2018

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A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

20 June 2018

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Lack of the bone morphogenetic protein BMP6 induces massive iron overload

20 June 2018

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Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver

20 June 2018

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20 June 2018

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Hemochromatosis and iron-overload screening in a racially diverse population.

20 June 2018

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20 June 2018

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Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation

20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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21 January 2018

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26 November 2018

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HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants

26 November 2018

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12 December 2020

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12 December 2020

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12 December 2020

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12 December 2020

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12 December 2020

Identification of New Mutations of the HFE, Hepcidin, and Transferrin Receptor 2 Genes by Denaturing HPLC Analysis of Individuals with Biochemical Indications of Iron Overload

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Identifiers

DOI

10.1002/HEP.27711

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25605615%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

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28 February 2020

1 reference

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