An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

2000 ◽  
Vol 15 (3) ◽  
pp. 228-237 ◽  
Author(s):  
Brunhilde Wirth
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Autosomal Recessive ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Mutation Spectrum ◽  
Survival Motor Neuron Gene

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy

1995 ◽  
Vol 4 (4) ◽  
pp. 631-634 ◽  
Author(s):  
N.R. Rodrigues ◽  
N. Owen ◽  
K. Talbot ◽  
J. Ignatius ◽  
V. Dubowitz ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Autosomal Recessive ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Survival Motor Neuron Gene

scholarly journals Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA)

1997 ◽  
Vol 6 (5) ◽  
pp. 821-825 ◽  
Author(s):  
E. Hahnen ◽  
J. Schonling ◽  
S. Rudnik-Schoneborn ◽  
H. Raschke ◽  
K. Zerres ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Missense Mutations ◽  
Survival Motor Neuron Gene
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