(Q73304588)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12709380%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Use of denaturing HPLC and a heteroduplex generator to detect the HFE C282Y mutation associated with genetic hemochromatosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12709380%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Use of Denaturing HPLC and a Heteroduplex Generator to Detect the HFE C282Y Mutation Associated with Genetic Hemochromatosis (English)

1 reference

26 December 2023

1

Séverine Fruchon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12709380

26 December 2023

author name string

Mounia Bensaid

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12709380%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Nicolas Borot

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12709380%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Marie-Paule Roth

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12709380%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Hélène Coppin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12709380%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

language of work or name

English

0 references

publication date

1 May 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12709380%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

2 November 2019

published in

Clinical Chemistry

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12709380%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12709380%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12709380%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

822-824

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12709380%20AND%20SRC:MED&resulttype=core&format=json

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

2 November 2019

cites work

1

1 reference

Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients

26 December 2023

2

1 reference

A population-based study of the clinical expression of the hemochromatosis gene

26 December 2023

3

1 reference

Haemochromatosis and HLA-H

26 December 2023

4

1 reference

Haemochromatosis and HLA-H.

26 December 2023

5

1 reference

Global prevalence of putative haemochromatosis mutations

26 December 2023

6

1 reference

Population screening for hemochromatosis: has the time finally come?

26 December 2023

8

1 reference

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

26 December 2023

9

1 reference

A rapid non-invasive method for the detection of the haemochromatosis C282Y mutation

26 December 2023

10

1 reference

Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis

26 December 2023

11

1 reference

Genotyping of two mutations in the HFE gene using single-base extension and high-performance liquid chromatography.

26 December 2023

12

1 reference

Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis

26 December 2023

13

1 reference

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

26 December 2023

15

1 reference

Novel method for molecular detection of the two common hereditary hemochromatosis mutations

26 December 2023

16

1 reference

Rapid genetic screening for haemochromatosis using heteroduplex technology

26 December 2023

18

1 reference

Hereditary hemochromatosis: aHpal polymorphism within the HLA-H gene

26 December 2023

19

1 reference

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

26 December 2023

20

1 reference

26 December 2023

Identifiers

DOI

10.1373/49.5.822

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12709380%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference