Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
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Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenumTargeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosisJuvenile hemochromatosis locus maps to chromosome 1q.HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama.Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosisHFE gene knockout produces mouse model of hereditary hemochromatosisIranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutationsFrequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis.Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis.Intracellular iron transport and storage: from molecular mechanisms to health implications.Sequence variation and haplotype structure at the human HFE locus.EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).Molecular pathogenesis of iron overload.Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.Prevalence of 845G>A HFE mutation in Slavic populations: an east-west linear gradient in South SlavsThe significance of haemochromatosis gene mutations in the general population: implications for screening.HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosisAtypical haemochromatosis: phenotypic spectrum and beta2-microglobulin candidate gene analysisMild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls.Targeted disruption of the HFE geneLow frequency of HFE gene mutations in Croatian patients suspected of having hereditary hemochromatosis.Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understandingOf metals, mice, and men: what animal models can teach us about body iron loading.Hemochromatosis: clinical implications of genetic testing.Screening in liver disease.Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes.Survey of Hfe Gene C282Y Mutation in Turkish Beta-Thalassemia Patients and Healthy Population: A Preliminary Study.The significance of the 187G (H63D) mutation in hemochromatosis.Hereditary hemochromatosis
P2860
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P2860
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
description
1997 nî lūn-bûn
@nan
1997 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
@ast
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
@en
type
label
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
@ast
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
@en
prefLabel
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
@ast
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
@en
P2093
P2860
P1476
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
@en
P2093
C Camaschella
L D'Ambrosio
M A Valentino
P2860
P304
P407
P577
1997-04-01T00:00:00Z