Clinical penetrance of C282Y homozygous HFE hemochromatosis. - Wikidata - awgldk - TriplyDB

Clinical penetrance of C282Y homozygous HFE hemochromatosis.

Clinical penetrance of C282Y homozygous HFE hemochromatosis.

http://www.wikidata.org/entity/Q37810066

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Association Studies of HFE C282Y and H63D Variants with Oral Cancer Risk and Iron Homeostasis Among Whites and Blacks.Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Diagnosis and treatment of hereditary hemochromatosis: an update.Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.The evolutionary adaptation of hemochromatosis associated mutations during the neolithic.Identification of Misclassified ClinVar Variants via Disease Population Prevalence

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Clinical penetrance of C282Y homozygous HFE hemochromatosis.

http://www.wikidata.org/entity/Q37810066

description

article científic

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article scientifique

@fr

articolo scientifico

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artigo científico

@pt

bilimsel makale

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scientific article published on December 2008

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

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name

Clinical penetrance of C282Y homozygous HFE hemochromatosis.

@en

Clinical penetrance of C282Y homozygous HFE hemochromatosis.

@nl

type

label

Clinical penetrance of C282Y homozygous HFE hemochromatosis.

@en

Clinical penetrance of C282Y homozygous HFE hemochromatosis.

@nl

prefLabel

Clinical penetrance of C282Y homozygous HFE hemochromatosis.

@en

Clinical penetrance of C282Y homozygous HFE hemochromatosis.

@nl

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Expert Review of Hematology

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Clinical penetrance of C282Y homozygous HFE hemochromatosis.

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Enrico Rossi

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Gary P Jeffrey

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P2860

Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization

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

Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance

HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis

A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin

Iron-overload-related disease in HFE hereditary hemochromatosis

HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload

Noninvasive measurement of iron: report of an NIDDK workshop.

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

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205-216

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scholarly article

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21082925

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