Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene (Q24671532)

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English	Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene	scientific article

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instance of

scholarly article

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title

Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene (English)

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author name string

G Montosi

series ordinal

1

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A Donovan

series ordinal

2

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A Totaro

series ordinal

3

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C Garuti

series ordinal

4

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E Pignatti

series ordinal

5

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S Cassanelli

series ordinal

6

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C C Trenor

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7

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P Gasparini

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8

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N C Andrews

series ordinal

9

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A Pietrangelo

series ordinal

10

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language of work or name

English

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publication date

August 2001

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published in

Journal of Clinical Investigation

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volume

108

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issue

4

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page(s)

619-23

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cites work

A novel mammalian iron-regulated protein involved in intracellular iron metabolism

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PubMed Central

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7 April 2017

Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family

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7 April 2017

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

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PubMed Central

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7 April 2017

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

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PubMed Central

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7 April 2017

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

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209405

retrieved

7 April 2017

Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209405

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7 April 2017

Geography of HFE C282Y and H63D mutations

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PubMed Central

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7 April 2017

A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation

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PubMed Central

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7 April 2017

Transferrin receptor 2-alpha supports cell growth both in iron-chelated cultured cells and in vivo

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PubMed Central

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7 April 2017

Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter

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PubMed Central

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7 April 2017

Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis

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PubMed Central

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7 April 2017

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

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28 September 2017

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

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28 September 2017

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

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PubMed Central

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28 November 2018

Iron homeostasis: insights from genetics and animal models

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11518736

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11518736

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of hemochromatosis in Italy

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11518736

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11518736

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1172/JCI13468

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PMC publication ID

209405

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PubMed publication ID

11518736

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