TY  -  
T1  - Copy number variants in genes causing neuromuscular disorders 
SN  -  /  
UR  - URN:ISBN:978-957-57-8202-9; http://hdl.handle.net/10138/343461 
T3  -  
A1  - Sagath, Lydia 
A2  -  
PB  - Helsingin yliopisto 
Y1  - 2022 
LA  - en 
AB  - The aim of this thesis project was to improve the methods of molecular genetic mutation analysis in neuromuscular disorders, mainly focusing on challenging repetitive intragenic regions and making these methods more accessible.
The large skeletal muscle genes nebulin and titin contain large repetitive, i.e., segmental duplication regions. These regions cause hurdles for standard copy number variation detection methods and are therefore often omitted from analysis. The segmental duplication regio... 
VO  -  
IS  -  
SP  -  
OP  -  
KW  - human molecular genetics 
N1  -   
PP  -  
ER  -