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

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

Item
http://www.wikidata.org/entity/Q33679433
A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload.A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis.Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis.The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetranceHFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosisVariable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism.The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.Exploring the relationship between maternal iron status and offspring's blood pressure and adiposity: a Mendelian randomization study.Maternal Iron Status in Pregnancy and Long-Term Health Outcomes in the Offspring.Hepatic damage in C282Y homozygotes relates to low numbers of CD8+ cells in the liver lobuli.Current Clinical Practice: Hereditary Haemochromatosis: Recent Advances in Biology and Management.The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population.
P2860

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

Item
http://www.wikidata.org/entity/Q33679433
description
1997 nî lūn-bûn
@nan
1997 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի սեպտեմբերին 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
Homozygosity for the predomina ...... in hereditary haemochromatosis
@ast
Homozygosity for the predomina ...... in hereditary haemochromatosis
@en
type
label
Homozygosity for the predomina ...... in hereditary haemochromatosis
@ast
Homozygosity for the predomina ...... in hereditary haemochromatosis
@en
prefLabel
Homozygosity for the predomina ...... in hereditary haemochromatosis
@ast
Homozygosity for the predomina ...... in hereditary haemochromatosis
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Homozygosity for the predomina ...... in hereditary haemochromatosis
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932