Case Reports in Neurological Medicine / 2014 / Article / Fig 1

Case Report

Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion

Figure 1

(a) Electropherograms from the proband (A) and a control subject (B). The sequence variation is a G to A transition at position 194 (GenBank Acc. no. AJ246001: c.194G>A) causing the substitution of arginine at position 65 with a histidine (p.R65H). (b) The residue at position 65 is highly conserved among different species.
216094.fig.001a
(a)
216094.fig.001b
(b)

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