(Q45868082)

17 December 2017

title

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

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17 December 2017

main subject

hemophilia

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Coagulation factor VIII

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Castaman G

1

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17 December 2017

Giacomelli SH

2

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17 December 2017

Ghiotto R

3

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17 December 2017

Boseggia C

4

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17 December 2017

Pojani K

5

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17 December 2017

Bulo A

6

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17 December 2017

Madeo D

7

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17 December 2017

Rodeghiero F

8

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17 December 2017

publication date

1 May 2007

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17 December 2017

published in

Haemophilia

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17 December 2017

volume

13

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17 December 2017

issue

3

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17 December 2017

page(s)

311-316

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17 December 2017

Haemophilia A: from mutation analysis to new therapies

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2007.01459.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2007.01459.X

Evaluation of DHPLC in the analysis of hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2007.01459.X

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2007.01459.X

Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2007.01459.X

Some factor VIII exon 14 frameshift mutations cause moderately severe haemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2007.01459.X

Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2007.01459.X

The human peripheral benzodiazepine receptor gene: cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2007.01459.X

Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2007.01459.X

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2007.01459.X

Sequencing of the factor 8(F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2007.01459.X

10.1111/J.1365-2516.2007.01459.X

21 January 2018

Identifiers

DOI

1 reference

17 December 2017

1 reference

17 December 2017