(Q35770155)

10 August 2017

External quality assurance of molecular analysis of haemochromatosis gene mutations (English)

1 reference

10 August 2017

M Hertzberg

1

1 reference

10 August 2017

S Neville

series ordinal

2

1 reference

10 August 2017

D McDonald

series ordinal

3

1 reference

10 August 2017

language of work or name

English

0 references

publication date

5 May 2006

1 reference

Journal of Clinical Pathology

10 August 2017

1 reference

10 August 2017

59

1 reference

10 August 2017

7

1 reference

10 August 2017

744-747

1 reference

Hereditary hemochromatosis--a new look at an old disease

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860421

Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860421

Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860421

Multicentric origin of hemochromatosis gene (HFE) mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860421

Global prevalence of putative haemochromatosis mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860421

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860421

Internal quality control of PCR-based genotyping methods in research studies and patient diagnostics.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860421

Quality assurance in molecular genetic testing laboratories.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860421

Multicenter evaluation of PCR methods for the detection of factor V Leiden (R506Q) genotypes.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860421

External quality assurance of DNA testing for thrombophilia mutations

25 September 2018

1 reference

12 December 2020

A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation

1 reference

12 December 2020

Relatively poor performance of clinical laboratories for DNA analyses in the detection of two thrombophilic mutations--a cause for concern

1 reference

12 December 2020

A UK National External Quality Assessment scheme (UK Neqas) for molecular genetic testing for the diagnosis of familial thrombophilia

1 reference

12 December 2020

Identifiers

DOI

10.1136/JCP.2005.026005

1 reference

10 August 2017

1 reference

10 August 2017

1 reference