Aprataxin mutations are a rare cause of early onset ataxia in Germany.

Hellenbroich Y

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Aprataxin mutations are a rare cause of early onset ataxia in Germany.

机译：Aprataxin突变是德国早期共济失调的罕见原因。

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Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal. We screened a group of 165 early onset ataxia patients for APTX mutations and detected two non-related patients homozygous for the W293X nonsense mutation. Additionally, we describe several new transcript variants of the APTX gene and discuss their relevance for a sufficient mutation screening.

机译：Aprataxin（APTX）突变是导致眼运动性失用症1型（AOA1）共济失调的原因，AOA1是与9p13染色体相关的常染色体隐性遗传疾病.AOA1似乎是日本和葡萄牙最常见的隐性共济失调原因之一。我们筛选了165名早期共济失调患者的APTX突变，并检测了2名W293X无意义突变纯合的无关患者。此外，我们描述了APTX基因的几个新的转录本变体，并讨论了它们与足够的突变筛查的相关性。

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《Journal of neurology》 |2004年第5期|共4页
作者
Hellenbroich Y;
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正文语种 eng
中图分类神经病学与精神病学;
关键词
Ataxia; Mutation; Germany; Aspects of disease screening; Portugal; 共济失调; 突变; 德国; 葡萄牙;

机译：Ataxia;Mutation;Germany;Aspects of disease screening;Portugal;共济失调;突变;德国;葡萄牙;

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1. Aprataxin mutations are a rare cause of early onset ataxia in Germany. [J] . Hellenbroich Y Journal of neurology . 2004,第5期

机译：Aprataxin突变是德国早期共济失调的罕见原因。
2. Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia [J] . Keogh M. J., Steele H., Douroudis K., Journal of neurology . 2015,第8期

机译：原因不明的迟发性小脑共济失调中罕见的隐性突变频率
3. Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan. [J] . Lee YC, Lu YC, Chang MH, Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology . 2007,第1a2期

机译：常见的线粒体DNA和POLG1突变在台湾成年共济失调的中国患者中很少见。
4. Fatal Mutations in HIV Population as an Influential Factor for an Onset of AIDS [C] . Kouji Harada, Yoshiteru Ishida International Conference on Knowledge-Based Intelligent Information and Engineering Systems;KES 2008 . 2008

机译：HIV人群中的致命突变是AIDS发作的影响因素
5. Infant Onset Spinocerebellar Ataxia Type 13 Mutation Leads to Developmental and Rapid Degenerative Phenotypes Related to Hyperexcitability in Purkinje Cells [D] . Ulrich, Brittany Nicole. 2017

机译：婴儿起病的脊髓小脑共济失调13型突变导致发展和快速退化的表型与浦肯野细胞过度兴奋有关。
6. A Novel Mutation in the Aprataxin (APTX) Gene in an Iranian Individual Suffering Early-Onset Ataxia with Oculomotor Apraxia Type 1(AOA1) Disease [O] . Nayereh Nouri, Narges Nouri, Omid Aryani, 2012

机译：伊朗个体患有动眼性失用症1型（AOA1）疾病的早期共济失调的Aprataxin（APTX）基因的新型突变。
7. Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia [O] . 2015

机译：原因不明的迟发性小脑共济失调中罕见的隐性突变频率

Aprataxin mutations are a rare cause of early onset ataxia in Germany.

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