(Q45864165)

English

Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients

scientific article published in December 1999

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients (English)

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

0 references

Coagulation factor VIII

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0 references

author name string

Bagnall RD

1

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

Waseem NH

2

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

Green PM

3

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

Colvin B

4

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

Lee C

5

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

Giannelli F

6

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

language of work or name

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publication date

1 December 1999

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

British Journal of Haematology

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

107

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

4

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

766-771

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01767.X

21 January 2018

Characterization of the human factor VIII gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01767.X

21 January 2018

Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01767.X

21 January 2018

The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01767.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01767.X

21 January 2018

Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01767.X

21 January 2018

A BRCA1 nonsense mutation causes exon skipping

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01767.X

21 January 2018

Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01767.X

21 January 2018

Factor VIII gene explains all cases of haemophilia A

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01767.X

21 January 2018

Exon definition may facilitate splice site selection in RNAs with multiple exons

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01767.X

21 January 2018

Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01767.X

21 January 2018

Analysis of the haemophilia A mutation in sporadic patients registered at the Royal London Hospital and their families

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01767.X

21 January 2018

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01767.X

21 January 2018

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01767.X

21 January 2018

Identifiers

10.1046/J.1365-2141.1999.01767.X

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/10606882

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