Title: | A novel BICD2 mutation of a patient with Spinal Muscular Atrophy Lower Extremity Predominant 2 |
Journal : | Intractable & rare diseases research, 10, 2 |
Authors: | Tumurkhuu M ; Batbuyan U ; Yuzawa S ; Munkhsaikhan Y ; Batmunkh G ; Nishimura W |
Material Type: | Article |
Publication Date: | 05/2021 |
Size: | p 102 |
Languages: | English |
Keywords: | Arg162Cys;coiled coil structure;dynein-dynactin complex;novel mutation; |
Pubmed / DOI : | Pubmed : 33996355 / DOI : 10.5582/irdr.2021.01004 |
N° Profil MNM : | 2021052 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/33996355 |