(Q35199292)

7 August 2017

Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis (English)

1 reference

7 August 2017

1 reference

David E Barton

2

0 references

author name string

Caitriona King

series ordinal

1

1 reference

PubMed ID

17134494

7 August 2017

language of work or name

1 reference

29 November 2006

1 reference

7 August 2017

1 reference

7 August 2017

7

1 reference

7 August 2017

81

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-7-81

7 August 2017

0 references

cites work

The penetrance of hereditary hemochromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684250

Inherited iron loading: genetic testing in diagnosis and management

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684250

Hereditary hemochromatosis--a new look at an old disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684250

Hereditary hemochromatosis since discovery of the HFE gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684250

Contribution of different HFE genotypes to iron overload disease: a pooled analysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684250

EASL International Consensus Conference on Haemochromatosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684250

The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684250

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684250

The genetic testing of children. Working Party of the Clinical Genetics Society (UK)

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684250

Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684250

Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium

15 November 2018

1 reference

12 December 2020

Relation between HFE mutations and mild iron-overload expression

1 reference

12 December 2020

Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y

1 reference

12 December 2020

Simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations

1 reference

12 December 2020

HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis

1 reference

12 December 2020

Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis

1 reference

12 December 2020

LightCycler PCR assay for simultaneous detection of the H63D and S65C mutations in the HFE hemochromatosis gene based on opposite melting temperature shifts

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-7-81

1 reference

PubMed ID

17134494

Dimensions Publication ID

7 August 2017

1003549165

0 references

Fatcat ID

release_i2bddlc475e43gvvujpszfnxty

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/i2bddlc475e43gvvujpszfnxty

24 November 2022

mapped directly with Wikidata item

PMCID

1684250

1 reference

7 August 2017

1 reference

PubMed ID

17134494