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000188411 0247_ $$2ISSN$$a2168-6149
000188411 0247_ $$2ISSN$$a2168-6157
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000188411 1001_ $$0P:(DE-Juel1)131622$$aMinnerop, Martina$$b0$$eCorresponding Author$$ufzj
000188411 245__ $$aAutosomal Recessive Cerebellar Ataxia 3 Due to Homozygote c.132dupA Mutation Within the ANO10 Gene.
000188411 260__ $$aChicago, Ill.$$bAmerican Medical Association$$c2015
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000188411 520__ $$aWith great interest we read the article by Renaud et al1 reporting a case series of 9 patients with autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations. The authors discussed the previously reported c.132dupA mutation with a heterozygote carrier frequency of 1/184 and postulated that the homozygote state of this mutation would either have a more severe phenotype or not be viable at all.
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000188411 7001_ $$0P:(DE-HGF)0$$aBauer, Peter$$b1
000188411 773__ $$0PERI:(DE-600)2701924-X$$a10.1001/jamaneurol.2014.3918$$gVol. 72, no. 2, p. 238 -$$n2$$p238 -239$$tJAMA neurology$$v72$$x2168-6149$$y2015
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000188411 9141_ $$y2015
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