scholarly journals Detection of a novel splice-site mutation that results in skipping exon 3 of the WASP gene in a patient with Wiskott-Aldrich syndrome

1996 ◽  
Vol 1317 (3) ◽  
pp. 158-160 ◽  
Author(s):  
Ta-i Ariga ◽  
Masafumi Yamada ◽  
Florecita R. Padua ◽  
Yukio Sakiyama
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Wiskott Aldrich Syndrome ◽  
Wasp Gene

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

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

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

Emery-Dreifuss Muscular Dystrophy Type 1 in a 15-Year-Old Patient Due to a Novel Putative Splice-Site Mutation

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
O. Schwartz ◽  
J. Althaus ◽  
B. Fiedler ◽  
K. Heß ◽  
W. Paulus ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation

2018 ◽  
Vol 70 (5) ◽  
Author(s):  
Melahat M. Oguz ◽  
Meltem Akcaboy ◽  
Asuman Gurkan ◽  
Esma Altinel Acoglu ◽  
Pelin Zorlu ◽  
...  
Keyword(s):  
Splice Site ◽  
Fever Of Unknown Origin ◽  
Ectodermal Dysplasia ◽  
Splice Site Mutation ◽  
Unknown Origin ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Site Mutation

scholarly journals Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies

2015 ◽  
Vol 133 (5) ◽  
pp. 511 ◽  
Author(s):  
Suma P. Shankar ◽  
David G. Birch ◽  
Richard S. Ruiz ◽  
Dianna K. Hughbanks-Wheaton ◽  
Lori S. Sullivan ◽  
...  
Keyword(s):  
Splice Site ◽  
Founder Effect ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Retinal Dystrophies
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