scholarly journals Identification of a novel mutation in the factor VIII gene causing severe haemophilia A

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
S. K. Nissen ◽  
A. L. Laursen ◽  
L. H. Poulsen ◽  
T. H. Mogensen
Keyword(s):  
Factor Viii ◽  
Novel Mutation ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Factor Viii Gene

A Novel Mutation (2409delT) in Exon 14 of the Factor VIII Gene Causes Severe Haemophilia A

2000 ◽  
Vol 50 (4) ◽  
pp. 266-267 ◽  
Author(s):  
Francisco Vidal ◽  
Elisenda Farssac ◽  
Carme Altisent ◽  
Lluís Puig ◽  
Dominique Gallardo
Keyword(s):  
Factor Viii ◽  
Novel Mutation ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Factor Viii Gene

Frequencies of intron 1 and 22 inversions of factor VIII gene: A first report in Afghan patients with severe haemophilia A

Haemophilia ◽  
2018 ◽  
Vol 24 (3) ◽  
pp. e157-e160 ◽  
Author(s):  
S. H. Mousavi ◽  
S. A. Mesbah-Namin ◽  
N. Rezaie ◽  
S. Zeinali
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Factor Viii Gene ◽  
First Report ◽  
Intron 1

Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature

2004 ◽  
Vol 15 (7) ◽  
pp. 569-572 ◽  
Author(s):  
Liliana C Rossetti ◽  
Miguel Candela ◽  
Raúl Pérez Bianco ◽  
Miguel de Tezanos Pinto ◽  
Andrea Western ◽  
...  
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Review Of The Literature ◽  
Factor Viii Gene ◽  
Intron 1 ◽  
Intron 1 Inversion

Another Variant Pattern of Intron 22 Inversion in the Factor VIII Gene Seen in a Severe Haemophilia A Patient

1997 ◽  
Vol 78 (04) ◽  
pp. 1303-1303 ◽  
Author(s):  
Mohammed S Enayat ◽  
Bimal D M Theophilus ◽  
Michael D Williams ◽  
Jonathan T Wilde ◽  
Frank G H Hill
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Factor Viii Gene ◽  
Intron 22 Inversion ◽  
Variant Pattern

Small Deletion/Insertion Mutations within Poly-A Runs of the Factor VIII Gene Mitigate the Severe Haemophilia A Phenotype

1998 ◽  
Vol 79 (02) ◽  
pp. 452-453 ◽  
Author(s):  
J. Schröder ◽  
C. Schmitt ◽  
H. H. Brackmann ◽  
R. Schwaab ◽  
J. Oldenburg
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Factor Viii Gene ◽  
Small Deletion ◽  
Insertion Mutations

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

1993 ◽  
Vol 5 (3) ◽  
pp. 236-241 ◽  
Author(s):  
Delia Lakich ◽  
Haig H. Kazazian ◽  
Stylianos E. Antonarakis ◽  
Jane Gitschier
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Factor Viii Gene ◽  
Common Cause

Analysis of intron 1 factor VIII gene inversion for direct diagnosis in patients with severe haemophilia A in China

2008 ◽  
Vol 28 (2) ◽  
pp. 160-161 ◽  
Author(s):  
Yan Liang ◽  
Mei Yan ◽  
Bai Xiao ◽  
Jingzhong Liu
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Factor Viii Gene ◽  
Intron 1

Inversions of the factor VIII gene in Slovenian patients with severe haemophilia A

2009 ◽  
Vol 63 (1) ◽  
pp. 64-66 ◽  
Author(s):  
L. Strmecki ◽  
M. Benedik-Dolnicar ◽  
B. Vidan-Jeras ◽  
R. Komel
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Factor Viii Gene

Intron 22 factor VIII gene inversions in Argentine families with severe haemophilia A

Haemophilia ◽  
2000 ◽  
Vol 6 (1) ◽  
pp. 21-22 ◽  
Author(s):  
De Brasi ◽  
Candela ◽  
Cermelj ◽  
Slavutsky ◽  
Larripa ◽  
...  
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Factor Viii Gene
Sign in / Sign up

Export Citation Format

Share Document