Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression (Q78053129)

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10 December 2019

title

Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression (English)

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10 December 2019

main subject

linkage disequilibrium

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1

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10 December 2019

author name string

L M Fletcher

2

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10 December 2019

W R Pyper

3

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10 December 2019

K A Do

4

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10 December 2019

D H Crawford

5

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10 December 2019

L W Powell

6

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10 December 2019

E C Jazwinska

7

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10 December 2019

publication date

1 July 1999

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10 December 2019

published in

Journal of Hepatology

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10 December 2019

volume

31

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10 December 2019

issue

1

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10 December 2019

page(s)

39-46

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

10 December 2019

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The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

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A comparison of linkage disequilibrium measures for fine-scale mapping

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7 January 2021

Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F

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7 January 2021

Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE).

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New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105

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

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

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Clinical Features of Genetic Hemochromatosis in Women Compared with Men

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Hemochromatosis: association of severity of iron overload with genetic markers

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Phenotype-genotype correlation in haemochromatosis subjects

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7 January 2021

Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis

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The spinal muscular atrophy gene region at 5q13.1 has a paralogous chromosomal region at 6p21.3.

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Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis

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Confirmation of the efficacy of hepatic tissue iron index in differentiating genetic haemochromatosis from alcoholic liver disease complicated by alcoholic haemosiderosis

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7 January 2021

Evaluation of the hepatic iron index as a diagnostic criterion for genetic hemochromatosis

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7 January 2021

Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor

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7 January 2021

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

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7 January 2021

The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression

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7 January 2021

Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β 2 -microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

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7 January 2021

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Identifiers

DOI

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10 December 2019

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