proximal spinal muscular atrophy
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SMN1 gene point mutations in type I–IV proximal spinal muscular atrophy patients with a single copy of SMN1

2015 ◽  
Vol 51 (9) ◽  
pp. 925-931
Author(s):  
V. V. Zabnenkova ◽  
E. L. Dadali ◽  
S. B. Artemieva ◽  
I. V. Sharkova ◽  
G. E. Rudenskaya ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Point Mutations ◽  
Single Copy ◽  
Type I ◽  
Smn1 Gene ◽  
Proximal Spinal Muscular Atrophy

scholarly journals Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) – update 2015

2015 ◽  
Vol 23 (11) ◽  
pp. 1-3 ◽  
Author(s):  
Sabine Rudnik-Schöneborn ◽  
Thomas Eggermann ◽  
Wolfram Kress ◽  
Henny H Lemmink ◽  
Jan-Maarten Cobben ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Utility ◽  
Muscular Atrophy ◽  
Proximal Spinal Muscular Atrophy
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