Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload. - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q30377611

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Management of human factors engineering-associated hemochromatosis: A 2015 update Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine Pathophysiological consequences and benefits of HFE mutations: 20 years of research.Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis.Relationship of Baseline Hemoglobin Level with Serum Ferritin, Postphlebotomy Hemoglobin Changes, and Phlebotomy Requirements among HFE C282Y Homozygotes The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda.Genetic factors that affect nonalcoholic fatty liver disease: A systematic clinical review.Diabetes in HFE Hemochromatosis.Iron loading in HFE p.C282Y homozygotes found by population screening: relationships to HLA-type and T-lymphocyte subsets.Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes.The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients.Concepts of Genomics in Kidney Transplantation.Population Screening for Hereditary Haemochromatosis in Australia: Construction and Validation of a State-Transition Cost-Effectiveness Model.Glyceronephosphate O-acyltransferase as a hemochromatosis modifier gene: Another iron in the fire?GNPAT p.D519G variant and iron metabolism during oral iron tolerance test.Identification of new BMP6 pro-peptide mutations in patients with iron overload.Cost-Effectiveness of Different Population Screening Strategies for Hereditary Haemochromatosis in Australia.Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.Reply Reply Reply Inherited Disorders of Iron Overload

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P2860

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

http://www.wikidata.org/entity/Q30377611

description

2015 nî lūn-bûn

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2015 թուականի Մարտին հրատարակուած գիտական յօդուած

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2015 թվականի մարտին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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Exome sequencing in HFE C282Y ...... ted with severe iron overload.

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Exome sequencing in HFE C282Y ...... ted with severe iron overload.

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Exome sequencing in HFE C282Y ...... ted with severe iron overload.

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Exome sequencing in HFE C282Y ...... ted with severe iron overload.

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Exome sequencing in HFE C282Y ...... ted with severe iron overload.

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Exome sequencing in HFE C282Y ...... ted with severe iron overload.

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Exome sequencing in HFE C282Y ...... ated with severe iron overload

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Christine E McLaren

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Deborah A Nickerson

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Gordon D McLaren

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Grant A Ramm

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Justin B Goh

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Lawrie W Powell

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Mary J Emond

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Paul C Adams

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Pradyumna D Phatak

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Tin Louie

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P2860

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

Identification of erythroferrone as an erythroid regulator of iron metabolism

Iron-overload-related disease in HFE hereditary hemochromatosis

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

Lack of the bone morphogenetic protein BMP6 induces massive iron overload

A general framework for estimating the relative pathogenicity of human genetic variants

Impaired membrane traffic in defective ether lipid biosynthesis.

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia

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

Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis.

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62

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Nathan V Subramaniam

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Gregory J Anderson

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2015-03-18T00:00:00Z

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271223195

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