(Q45260143)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23809411%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

Deep intronic 'mutations' cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23809411%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

0 references

0 references

1

1 reference

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4 March 2020

author name string

N Zimmer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23809411%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

N Marquardt

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23809411%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

I Nanda

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23809411%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

T Haaf

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23809411%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

U Budde

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23809411%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

J Oldenburg

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23809411%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

O El-Maarri

8

1 reference

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4 March 2020

publication date

1 September 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23809411%20AND%20SRC:MED&resulttype=core&format=json

Journal of Thrombosis and Haemostasis

4 March 2020

published in

1 reference

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4 March 2020

volume

11

1 reference

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4 March 2020

issue

9

1 reference

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4 March 2020

page(s)

1679-1687

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23809411%20AND%20SRC:MED&resulttype=core&format=json

Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene.

4 March 2020

cites work

1 reference

Splicing in disease: disruption of the splicing code and the decoding machinery

21 January 2018

1 reference

The Pso4 mRNA splicing and DNA repair complex interacts with WRN for processing of DNA interstrand cross-links

21 January 2018

1 reference

F8 mRNA studies in haemophilia A patients with different splice site mutations

21 January 2018

1 reference

Deep intronic variations may cause mild hemophilia A.

21 January 2018

1 reference

Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy

21 January 2018

1 reference

Identification and characterization of an adenine to guanine transition within intron 10 of the factor VIII gene as a causative mutation in a patient with mild haemophilia A.

21 January 2018

1 reference

Investigation of disease-associated factors in haemophilia A patients without detectable mutations

21 January 2018

1 reference

Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats.

21 January 2018

1 reference

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

21 January 2018

1 reference

Lack of F8 mRNA: a novel mechanism leading to hemophilia A.

21 January 2018

1 reference

Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium

21 January 2018

1 reference

BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy.

21 January 2018

1 reference

HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.

21 January 2018

1 reference