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T1  - Effect of nebulin variants on nebulin-actin interaction 
SN  -  /  
UR  - URN:NBN:fi:hulib-201912034054; http://hdl.handle.net/10138/308218 
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A1  - Sofieva, Svetlana 
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PB  - Helsingin yliopisto 
Y1  - 2019 
LA  - eng 
AB  - Nemaline myopathy (NM) is a rare congenital disorder, the most common of congenital myopathies. It affects primarily the skeletal muscles and it is recognised by nemaline bodies in muscle tissue samples and muscle weakness. Mutation of eleven genes are known to lead to NM and the most frequent disease-causing variants are either recessive NEB variants or dominant ACTA1 variants. Variants in NEB are thought to be well tolerated and only 7% of them are hypothesized to be pathogenic. Over 200 patho... 
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KW  - nemaliinimyopatia; nebuliini; NEB; sitoutuminen aktiiniin; funktionaalinen analyysi; kosedimentaatio; proteiiniaffiniteetti; proteiinirakenteen ennustaminen; 3D-malli; I-TASSER; Nemaline myopathy; nebulin; NEB; actin-binding; functional assay; co-sedimentation; protein affinity; protein structure prediction; 3D-model; I-TASSER; perinnöllisyystiede; Genetics; genetik 
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