Cryptic splice site activation by a splice donor site mutation of dystrophin intron 64 is determined by intronic splicing regulatory elements

Niba E.; Nishuda A.; Tran V.; Vu D.; Matsumoto M.; Awano H.; Lee T.; Takeshima Y.; Nishio H.; Matsuo M.

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Cryptic splice site activation by a splice donor site mutation of dystrophin intron 64 is determined by intronic splicing regulatory elements

机译：肌营养不良蛋白内含子64的剪接供体位点突变引起的隐性剪接位点激活由内含子剪接调控元件决定

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《Neuromuscular disorders: NMD》 |2016年第2期|共1页
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Niba E.; Nishuda A.; Tran V.; Vu D.; Matsumoto M.; Awano H.; Lee T.; Takeshima Y.; Nishio H.; Matsuo M.;
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正文语种 eng
中图分类神经病学;
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1. Cryptic splice site activation by a splice donor site mutation of dystrophin intron 64 is determined by intronic splicing regulatory elements [J] . Niba E., Nishuda A., Tran V., Neuromuscular disorders: NMD . 2016,第Suppla2期

机译：肌营养不良蛋白内含子64的剪接供体位点突变引起的隐性剪接位点激活由内含子剪接调控元件决定
2. A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency. [J] . Fukao T, Sakurai S, Rolland MO, Molecular genetics and metabolism . 2006,第3期

机译：在患有琥珀酰辅酶A：3-酮酸辅酶A转移酶（SCOT）缺乏症的患者中，第一个内含子的剪接供体位点6 bp缺失导致使用外显子1内的隐蔽剪接位点进行异常剪接。
3. Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene. [J] . Baskin B, Banwell B, Khater RA, Neuromuscular disorders: NMD . 2009,第3期

机译：由内含子突变引起的贝克尔肌营养不良症降低了肌营养不良蛋白基因的内含子26的剪接供体位点的效率。
4. Tauopathy with intronic 10+14 splice site tau gene mutation mimicking Perry syndrome [C] . Omoto Masatoshi, Suzuki Satoshi, Ikeuchi Takeshi, International Congress of Neuropathology . 2010

机译：具有内含性10 + 14剪接部位Tau基因突变模拟佩里综合征的胁迫
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
6. Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation. [O] . U Schwarze, B J Starman, P H Byers 1999

机译：通过内含子8剪接供体位点突变以成骨不全的形式重新定义I型胶原的COL1A1基因中的外显子7：内含子剪接顺序对剪接位点突变结果的影响。
7. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G→A mutations in introns of the dystrophin gene [O] . Habara Y., Takeshima Y., Awano H., 2009

机译：体外剪接分析表明隐性剪接位点的可用性不是由肌营养不良蛋白基因内含子中的+ 1G→A突变引起的替代剪接模式的决定因素

Cryptic splice site activation by a splice donor site mutation of dystrophin intron 64 is determined by intronic splicing regulatory elements

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