(Q45871078)

17 December 2017

title

Deep intronic variations may cause mild hemophilia A. (English)

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17 December 2017

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9

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17 December 2017

author name string

G Castaman

1

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17 December 2017

S H Giacomelli

2

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17 December 2017

M E Mancuso

3

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17 December 2017

G D'Andrea

4

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17 December 2017

R Santacroce

5

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17 December 2017

S Sanna

6

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17 December 2017

E Santagostino

7

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17 December 2017

P M Mannucci

8

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17 December 2017

F Rodeghiero

10

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17 December 2017

publication date

1 August 2011

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17 December 2017

Journal of Thrombosis and Haemostasis

published in

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17 December 2017

volume

9

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17 December 2017

issue

8

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17 December 2017

page(s)

1541-1548

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17 December 2017

Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs

cites work

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https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.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.1538-7836.2011.04408.X

Molecular mechanisms of mild and moderate hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

Characterization of a causative mutation of hemophilia A identified in the promoter region of the factor VIII gene (F8).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

Characterization of a novel mutation in the F8 promoter region associated with mild hemophilia A and resistance to DDAVP therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

A genomic view of alternative splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

Frequent alternative splicing of human genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

Alternative splicing: increasing diversity in the proteomic world

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04408.X

10.1111/J.1538-7836.2011.04408.X

21 January 2018

Identifiers

DOI

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17 December 2017

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17 December 2017