A NOVEL INTRONIC SPLICE SITE TAFAZZIN GENE MUTATION DETECTED PRENATALLY IN A FAMILY WITH BARTH SYNDROME RESPONSE

Baksiene M.; Benusiene E.; Morkuniene A.; Ambrozaityte L.; Utkus A.; Kucinskas V

首页> 外文期刊>Balkan journal of medical genetics: BJMG >A NOVEL INTRONIC SPLICE SITE TAFAZZIN GENE MUTATION DETECTED PRENATALLY IN A FAMILY WITH BARTH SYNDROME RESPONSE

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A NOVEL INTRONIC SPLICE SITE TAFAZZIN GENE MUTATION DETECTED PRENATALLY IN A FAMILY WITH BARTH SYNDROME RESPONSE

机译：一种新的内含性剪接位点Tafazzin基因突变在具有Barth综合征反应的家庭中预先检测

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《Balkan journal of medical genetics: BJMG》 |2017年第2期|共2页
作者
Baksiene M.; Benusiene E.; Morkuniene A.; Ambrozaityte L.; Utkus A.; Kucinskas V;
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Vilnius Univ Hosp Santaros Klinikos Ctr Med Genet Santariskiu 2 LT-08406 Vilnius Lithuania;

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正文语种 eng
中图分类遗传学;
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1. A NOVEL INTRONIC SPLICE SITE TAFAZZIN GENE MUTATION DETECTED PRENATALLY IN A FAMILY WITH BARTH SYNDROME RESPONSE [J] . Baksiene M., Benusiene E., Morkuniene A., Balkan journal of medical genetics: BJMG . 2017,第2期

机译：一种新的内含性剪接位点Tafazzin基因突变在具有Barth综合征反应的家庭中预先检测
2. A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon. [J] . Sakamoto O, Ohura T, Katsushima Y, Human Genetics . 2001,第5期

机译：Barth综合征患者中TAZ（G4.5）基因的新型内含子突变：创建5'剪接供体位点，具有变异的GC共有性和上游外显子的延伸。
3. Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family [J] . Axel Weber, Jonas Kreth, Ulrich Müller BMC Medical Genetics . 2016,第1期

机译：内含子PRRT2突变产生新的剪接受体位点，并在三代家庭中引起阵发性运动性运动障碍并伴有婴儿惊厥（PKD / IC）
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. A Novel Intronic Splice Site Tafazzin Gene Mutation Detected Prenatally in a Family with Barth Syndrome [O] . M Bakšienė, E Benušienė, A Morkūnienė, 2016

机译：一种新型的内含子剪接位点Tafazzin基因突变在巴氏综合征家庭中的产前检测。
7. A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome [O] . Bakšienė M, Benušienė E, Morkūnienė A, 2016

机译：一个新的内含子剪接位点tafazzin基因突变在产前Barth综合征家族中检测到

A NOVEL INTRONIC SPLICE SITE TAFAZZIN GENE MUTATION DETECTED PRENATALLY IN A FAMILY WITH BARTH SYNDROME RESPONSE

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