Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? (Q35363883)

7 August 2017

title

Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? (English)

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7 August 2017

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Aguilar-Martinez P

1

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7 August 2017

Bismuth M

2

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7 August 2017

Picot MC

3

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7 August 2017

Thelcide C

4

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7 August 2017

Pageaux GP

5

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7 August 2017

Blanc F

6

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7 August 2017

Blanc P

7

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7 August 2017

Schved JF

8

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7 August 2017

Larrey D

9

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7 August 2017

language of work or name

English

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publication date

1 June 2001

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7 August 2017

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7 August 2017

volume

48

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7 August 2017

issue

6

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7 August 2017

page(s)

836-842

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EASL International Consensus Conference on Haemochromatosis

7 August 2017

cites work

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

12 July 2018

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Genes that modify the hemochromatosis phenotype in mice

12 July 2018

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12 July 2018

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Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: implications for cellular iron homeostasis

12 July 2018

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Population screening for hemochromatosis

12 July 2018

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Multicentric origin of hemochromatosis gene (HFE) mutations

12 July 2018

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The significance of haemochromatosis gene mutations in the general population: implications for screening

12 July 2018

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Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain

12 July 2018

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Hemochromatosis: advances in molecular genetics and clinical diagnosis

12 July 2018

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The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding

12 July 2018

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Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis

12 July 2018

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Global prevalence of putative haemochromatosis mutations

12 July 2018

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Haemochromatosis and HLA-H.

12 July 2018

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

12 July 2018

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The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome

12 July 2018

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

12 July 2018

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H63D is an haemochromatosis associated allele

26 September 2018

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The Significance of the 187G (H63D) Mutation in Hemochromatosis

26 September 2018

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A new syndrome of liver iron overload with normal transferrin saturation

26 September 2018

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Isolated hyperferritinemia with normal transferrin saturation and dysmetabolism, in the absence of the two known mutations in the HFE gene of hereditary hemochromatosis

26 September 2018

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Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls

15 November 2018

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12 December 2020

Interaction between haemochromatosis and transferrin receptor genes in multiple myeloma

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12 December 2020

Polymorphisms in the HFE gene

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12 December 2020

Transferrin receptor mutation analysis in hereditary hemochromatosis patients

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12 December 2020

The dysmetabolic iron overload syndrome is clinically and genetically distinct from HFE-related genetic hemochromatosis

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12 December 2020

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

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12 December 2020

A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote

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12 December 2020

The transferrin receptor binding site on HFE, the class I MHC-related protein mutated in hereditary hemochromatosis

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12 December 2020

Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders

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12 December 2020

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

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12 December 2020

High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tarda

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12 December 2020

Phenotype-genotype correlation in haemochromatosis subjects

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12 December 2020

Haplotype analysis of the HFE gene: implications for the origins of hemochromatosis related mutations

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12 December 2020

HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France

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12 December 2020

Factor VII gene polymorphisms contribute about one third of the factor VII level variation in plasma

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12 December 2020

Long-term survival in patients with hereditary hemochromatosis

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12 December 2020

Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations

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12 December 2020

Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda

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12 December 2020

Simple and rapid detection of the newly described mutations in the HLA-H gene

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12 December 2020

Mutations of the hereditary hemochromatosis candidate gene HLA-H in porphyria cutanea tarda

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12 December 2020

Haemochromatosis gene mutation in hepatocellular cancer

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12 December 2020

New DNA polymorphisms define ethnically distinct haplotypes in the human transferrin receptor gene

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12 December 2020

Identifiers

DOI

10.1136/GUT.48.6.836

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7 August 2017

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7 August 2017

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