scholarly journals A point mutation in the lariat branch point of intron 6 ofNPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease

2004 ◽  
Vol 24 (5) ◽  
pp. 440-440 ◽  
Author(s):  
Enza Di Leo ◽  
Francesca Panico ◽  
Patrizia Tarugi ◽  
Carla Battisti ◽  
Antonio Federico ◽  
...  
Keyword(s):  
Point Mutation ◽  
Branch Point ◽  
Mrna Splicing ◽  
Type C ◽  
Niemann Pick

ANALYSIS OF CHOLESTEROL AND OXYSTEROL LEVELS IN NIEMANN PICK DISEASE TYPE C MICE AND PATIENTS

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
S Tay ◽  
X He ◽  
AM Jenner ◽  
BS Wong ◽  
WY Ong
Keyword(s):  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease
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