(Q45875406)

17 December 2017

title

Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A. (English)

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17 December 2017

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S Ravanbod

1

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17 December 2017

M Rassoulzadegan

2

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17 December 2017

G Rastegar-Lari

3

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17 December 2017

M Jazebi

4

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17 December 2017

S Enayat

5

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17 December 2017

F Ala

6

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17 December 2017

publication date

28 November 2011

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17 December 2017

published in

Haemophilia

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17 December 2017

volume

18

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17 December 2017

issue

3

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17 December 2017

page(s)

e340-6

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17 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2011.02708.X

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2011.02708.X

Allele frequencies of three factor VIII gene polymorphisms in Iranian populations and their application in hemophilia A carrier detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2011.02708.X

Identification of intron 1 and 22 inversion mutations in the factor VIII gene of 124 Iranian families with severe haemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2011.02708.X

Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2011.02708.X

Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2011.02708.X

ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2011.02708.X

Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2011.02708.X

Why do inhibitors develop? Principles of and factors influencing the risk for inhibitor development in haemophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2011.02708.X

The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2011.02708.X

Severe haemophilia A in a female: a compound heterozygote with nonrandom X-inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2011.02708.X

Identification of ten large deletions and one duplication in the F8 gene of eleven unrelated Iranian severe haemophilia A families using the multiplex ligation-dependent probe amplification technique

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2011.02708.X

10.1111/J.1365-2516.2011.02708.X

21 January 2018

Identifiers

DOI

1 reference

17 December 2017

release_bpbnmyin5ze3vhrsifq7rgil5m

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bpbnmyin5ze3vhrsifq7rgil5m

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

17 December 2017