(Q33307049)

English

Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay

scientific article

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scholarly article

1 reference

Europe PubMed Central

25 July 2017

Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay (English)

1 reference

Europe PubMed Central

25 July 2017

1 reference

based on heuristic

inferred from title

author name string

Marko Cukjati

1

1 reference

Europe PubMed Central

25 July 2017

Tomaz Vaupotic

2

1 reference

Europe PubMed Central

25 July 2017

Ruth Rupreht

3

1 reference

Europe PubMed Central

25 July 2017

Vladka Curin-Serbec

4

1 reference

Europe PubMed Central

25 July 2017

publication date

23 November 2007

1 reference

Europe PubMed Central

25 July 2017

BMC Medical Genetics

1 reference

Europe PubMed Central

25 July 2017

8

1 reference

Europe PubMed Central

25 July 2017

69

1 reference

Europe PubMed Central

25 July 2017

https://scigraph.springernature.com/pub.10.1186/1471-2350-8-69

0 references

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253505

21 June 2018

Hemochromatosis and iron-overload screening in a racially diverse population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253505

21 June 2018

Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253505

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253505

21 June 2018

HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253505

21 June 2018

An improved real time PCR method for simultaneous detection of C282Y and H63D mutations in the HFE gene associated with hereditary hemochromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253505

21 June 2018

Genotype screening for hereditary hemochromatosis among voluntary blood donors in Hungary.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253505

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253505

21 June 2018

Principles of screening for disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253505

21 June 2018

Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in 2501 ethnic Danes

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-69

21 January 2018

S65C and other mutations in the haemochromatosis gene in the Czech population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253505

31 October 2018

Prevalence of C282Y and E168X HFE mutations in an Italian population of Northern European ancestry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253505

31 October 2018

A Pilot C282Y Hemochromatosis Screening in Italian Newborns by TaqMan™ Technology

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-69

21 January 2018

Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of the hemochromatosis C282Y and H63D mutations in a Polish population of Slavic origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HFE mutations, iron deficiency and overload in 10,500 blood donors

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for hemochromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary hemochromatosis: the clinical significance of the S65C mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary hemochromatosis: detection of C282Y and H63D mutations in HFE gene by means of guthrie cards in population of Czech Republic

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemochromatosis gene mutations in the Croatian and Slovenian populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HFE genotype and parameters of iron metabolism in German first-time blood donors - evidence for an increased transferrin saturation in C282Y heterozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Celtic origin of the C282Y mutation of hemochromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The origin and spread of the HFE-C282Y haemochromatosis mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18036208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2350-8-69

1 reference

Europe PubMed Central

25 July 2017

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0 references

1 reference

Europe PubMed Central

25 July 2017

1 reference

Europe PubMed Central

25 July 2017

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