A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families

2018 ◽  
Vol 179 (2) ◽  
pp. 206-218 ◽  
Author(s):  
Jessica N. Hartley ◽  
Louise R. Simard ◽  
Valentina Ly ◽  
Marc R. Del Bigio ◽  
Patrick Frosk
Keyword(s):  
Neurodegenerative Disease ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Splice Acceptor ◽  
Site Mutation ◽  
Splice Acceptor Site Mutation

scholarly journals Splice-acceptor site mutation in p53 gene of hu888 zebrafish line

2014 ◽  
Vol 56 (1) ◽  
pp. 115-121 ◽  
Author(s):  
Alicja Piasecka ◽  
Paweł Brzuzan ◽  
Maciej Woźny ◽  
Sławomir Ciesielski ◽  
Dariusz Kaczmarczyk
Keyword(s):  
P53 Gene ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Splice Acceptor ◽  
Site Mutation ◽  
Splice Acceptor Site Mutation

p53 splice acceptor site mutation and increased HsRAD51 protein expression in Bloom's syndrome GM1492 fibroblasts

Gene ◽  
2000 ◽  
Vol 246 (1-2) ◽  
pp. 247-254 ◽  
Author(s):  
Kristinn P. Magnusson ◽  
Margareta Sandström ◽  
Margareta Ståhlberg ◽  
Maria Larsson ◽  
Jenny Flygare ◽  
...  
Keyword(s):  
Protein Expression ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Splice Acceptor ◽  
Bloom's Syndrome ◽  
Site Mutation ◽  
Bloom’S Syndrome ◽  
Splice Acceptor Site Mutation

A NOVEL SPLICE ACCEPTOR SITE MUTATION OF THE α2-GLOBIN GENE CAUSING α-THALASSEMIA

Hemoglobin ◽  
2001 ◽  
Vol 25 (3) ◽  
pp. 311-315 ◽  
Author(s):  
Nélida I. Noguera ◽  
Fernando A. González ◽  
Rubén A. Dávoli ◽  
Angela C. Milani ◽  
Ana Villegas
Keyword(s):  
Globin Gene ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Splice Acceptor ◽  
Site Mutation ◽  
Splice Acceptor Site Mutation

scholarly journals Detection of a rare splice acceptor site mutation (IVS I nt 130 G?C) of the ? globin gene in 3 patients of Eastern India

2001 ◽  
Vol 67 (2) ◽  
pp. 149-149 ◽  
Author(s):  
A. Bandyopadhyay ◽  
S. Bandyopadhyay ◽  
U.B. Dasgupta ◽  
S. Chandra ◽  
M.K. Das
Keyword(s):  
Globin Gene ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Splice Acceptor ◽  
Eastern India ◽  
Site Mutation ◽  
Splice Acceptor Site Mutation
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