Characterization of a Mutation in the 5′ Flanking Region and a Novel IVS7 Splice site Mutation in a Patient with Severe FVII Deficiency

2007 ◽  
pp. 272-278
Author(s):  
W. Schröder ◽  
K. Wulff ◽  
R. Tech ◽  
R. Grempler ◽  
A. Ruiz-Saez ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Flanking Region ◽  
Fvii Deficiency

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

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

scholarly journals Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5’ UTR end of ClC-5 mRNA in human renal tissue and leukocytes

2003 ◽  
Vol 49 (1) ◽  
pp. 53-60 ◽  
Author(s):  
Monica Forino ◽  
Romina Graziotto ◽  
Enrica Tosetto ◽  
Giovanni Gambaro ◽  
Angela D’Angelo ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Renal Tissue ◽  
Site Mutation ◽  
Clcn5 Gene

Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

2009 ◽  
Vol 19 (2) ◽  
pp. 151-154 ◽  
Author(s):  
Jan-Willem Taanman ◽  
Mariza Daras ◽  
Juliane Albrecht ◽  
Charles A. Davie ◽  
Elizabeth A. Mallam ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Mitochondrial Neurogastrointestinal Encephalomyopathy

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
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