scholarly journals Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome

2003 ◽  
Vol 48 (11) ◽  
pp. 590-593 ◽  
Author(s):  
Nuria Andreu ◽  
Carmen Carreras ◽  
Félix Prieto ◽  
Xavier Estivill ◽  
Victor Volpini ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Wiskott Aldrich Syndrome ◽  
Identification And Characterization

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema

2014 ◽  
Vol 150 (2) ◽  
pp. 143-148 ◽  
Author(s):  
Roger Colobran ◽  
Sergio Lois ◽  
Xavier de la Cruz ◽  
Ricardo Pujol-Borrell ◽  
Manuel Hernández-González ◽  
...  
Keyword(s):  
Splice Site ◽  
Hereditary Angioedema ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Serping1 Gene ◽  
Identification And Characterization

Identification and characterization of a novel splice-site mutation in the Wilson disease gene

2014 ◽  
Vol 345 (1-2) ◽  
pp. 154-158 ◽  
Author(s):  
Sheng-Peng Diao ◽  
Ming-Fan Hong ◽  
Ye-Qing Huang ◽  
Zhi-Sheng Wei ◽  
Quan-Xi Su ◽  
...  
Keyword(s):  
Splice Site ◽  
Wilson Disease ◽  
Disease Gene ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Identification And Characterization

scholarly journals A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Hossein Esmaeilzadeh ◽  
Mohammad Reza Bordbar ◽  
Hassan Dastsooz ◽  
Mohammad Silawi ◽  
Mohammad Ali Farazi Fard ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Chronic Colitis ◽  
Site Mutation ◽  
Wiskott Aldrich Syndrome ◽  
Was Gene

A novel splice site mutation in the WAS gene causes Wiskott???Aldrich syndrome in two siblings of a Saudi family

2004 ◽  
Vol 15 (7) ◽  
pp. 599-603
Author(s):  
Khaled K Abu-Amero ◽  
Tarek M Owaidah ◽  
Abduallah Al Jefri ◽  
Abdulaziz Al-Ghonaium ◽  
Ibrahim M Fawaz ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Wiskott Aldrich Syndrome ◽  
Saudi Family ◽  
Was Gene

Molecular characterization of a novel splice site mutation within theCYBB gene leading to X-linked chronic granulomatous disease

2005 ◽  
Vol 44 (4) ◽  
pp. 420-422 ◽  
Author(s):  
Cecilia N. Barese ◽  
Silvia B. Copelli ◽  
Elena De Matteo ◽  
Rub�n Zandomeni ◽  
Fabi�n Salgueiro ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Molecular Characterization ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Granulomatous Disease ◽  
Site Mutation
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