LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene

2007 ◽  
Vol 30 (4) ◽  
pp. 611-611 ◽  
Author(s):  
O. Y. Al-Dirbashi ◽  
K. K. Abu-Amero ◽  
A. F. Alswaid ◽  
G. F. Hoffmann ◽  
K. Al-Qahtani ◽  
...  
Keyword(s):  
Amino Acids ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Splice Acceptor ◽  
Site Mutation ◽  
Dibasic Amino Acids ◽  
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
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