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| Hauptseite > Publikationsdatenbank > Autosomal Recessive Cerebellar Ataxia 3 Due to Homozygote c.132dupA Mutation Within the ANO10 Gene. > print |
| Hauptseite > Publikationsdatenbank > Autosomal Recessive Cerebellar Ataxia 3 Due to Homozygote c.132dupA Mutation Within the ANO10 Gene. > print |
| 001 | 188411 | ||
| 005 | 20210129215207.0 | ||
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| 100 | 1 | _ | |a Minnerop, Martina |0 P:(DE-Juel1)131622 |b 0 |e Corresponding Author |u fzj |
| 245 | _ | _ | |a Autosomal Recessive Cerebellar Ataxia 3 Due to Homozygote c.132dupA Mutation Within the ANO10 Gene. |
| 260 | _ | _ | |a Chicago, Ill. |c 2015 |b American Medical Association |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1426256823_22920 |2 PUB:(DE-HGF) |
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| 520 | _ | _ | |a With 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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| 700 | 1 | _ | |a Bauer, Peter |0 P:(DE-HGF)0 |b 1 |
| 773 | _ | _ | |a 10.1001/jamaneurol.2014.3918 |g Vol. 72, no. 2, p. 238 - |0 PERI:(DE-600)2701924-X |n 2 |p 238 -239 |t JAMA neurology |v 72 |y 2015 |x 2168-6149 |
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