(Q78053129)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424281%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424281%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

main subject

linkage disequilibrium

1 reference

1

1 reference

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10 December 2019

author name string

L M Fletcher

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424281%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

W R Pyper

3

1 reference

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10 December 2019

K A Do

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424281%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

D H Crawford

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424281%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

L W Powell

6

1 reference

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10 December 2019

E C Jazwinska

7

1 reference

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10 December 2019

publication date

1 July 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424281%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

published in

Journal of Hepatology

1 reference

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10 December 2019

volume

31

1 reference

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10 December 2019

issue

1

1 reference

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10 December 2019

page(s)

39-46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424281%20AND%20SRC:MED&resulttype=core&format=json

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

10 December 2019

cites work

1 reference

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7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

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7 January 2021

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

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7 January 2021

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

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7 January 2021

A comparison of linkage disequilibrium measures for fine-scale mapping

1 reference

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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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980161-5

7 January 2021

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

1 reference

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7 January 2021

New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105

1 reference

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7 January 2021

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1 reference

7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

Haemochromatosis and HLA-H.

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7 January 2021

Haemochromatosis and HLA-H

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7 January 2021

Clinical Features of Genetic Hemochromatosis in Women Compared with Men

1 reference

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7 January 2021

Hemochromatosis: association of severity of iron overload with genetic markers

1 reference

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7 January 2021

Phenotype-genotype correlation in haemochromatosis subjects

1 reference

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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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980161-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980161-5

7 January 2021

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Identification of homozygous hemochromatosis subjects by measurement of hepatic iron index

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980161-5

7 January 2021

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

1 reference

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7 January 2021

Crystal Structure of the Hemochromatosis Protein HFE and Characterization of Its Interaction with Transferrin Receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980161-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980161-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980161-5

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980161-5

7 January 2021

HFE gene knockout produces mouse model of hereditary hemochromatosis

1 reference

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7 January 2021

Mapping of a major genetic modifier of embryonic lethality in TGF beta 1 knockout mice.

1 reference

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7 January 2021

Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor

1 reference

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7 January 2021

Multifactorial inheritance of neural tube defects: localization of the major gene and recognition of modifiers in ct mutant mice

1 reference

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7 January 2021

10.1016/S0168-8278(99)80161-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10424281%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference