Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome (vol 35, pg 1285, 2014)

Schwartzentruber Jeremy; Buhas Daniela; Majewski Jacek; Sasarman Florin; Papillon-Cavanagh Simon; Thiffault Isabelle; Sheldon Katherine M.; Massicotte Christine; Patry Lysanne; Simon Mariella; Zare Amir S.; McKernan Kevin J.; Michaud Jacques; Boles Richard G.; Deal Cheri L.; Desilets Valerie; Shoubridge Eric A.; Samuels Mark E.

首页> 外文期刊>Human mutation >Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome (vol 35, pg 1285, 2014)

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Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome (vol 35, pg 1285, 2014)

机译：白内障核编码的线粒体异形硅胶-TRNA合成酶IARS2中的突变，生长激素缺乏短地形，部分感觉耳聋和外周神经病或与Leigh综合征（Vol 35，PG 1285,2014）

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《Human mutation》 |2015年第2期|共1页
作者
Schwartzentruber Jeremy; Buhas Daniela; Majewski Jacek; Sasarman Florin; Papillon-Cavanagh Simon; Thiffault Isabelle; Sheldon Katherine M.; Massicotte Christine; Patry Lysanne; Simon Mariella; Zare Amir S.; McKernan Kevin J.; Michaud Jacques; Boles Richard G.; Deal Cheri L.; Desilets Valerie; Shoubridge Eric A.; Samuels Mark E.;
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作者单位

McGill Univ Montreal PQ Canada;

McGill Univ Montreal Childrens Hosp Dept Med Genet Montreal PQ H3H 1P3 Canada;

McGill Univ Montreal PQ Canada;

McGill Univ Dept Neurol Montreal PQ H3A 2T5 Canada;

McGill Univ Dept Human Genet Montreal PQ Canada;

McGill Univ Dept Neurol Montreal PQ H3A 2T5 Canada;

Courtagen Life Sci Woburn MA USA;

Univ Montreal CHU Ste Justine Ctr Rech Montreal PQ Canada;

Univ Montreal CHU Ste Justine Ctr Rech Montreal PQ Canada;

Courtagen Life Sci Woburn MA USA;

Courtagen Life Sci Woburn MA USA;

Univ Montreal CHU Ste Justine Ctr Rech Montreal PQ Canada;

Courtagen Life Sci Woburn MA USA;

Univ Montreal CHU Ste Justine Ctr Rech Montreal PQ Canada;

Univ Montreal CHU Ste Justine Ctr Rech Montreal PQ Canada;

McGill Univ Dept Neurol Montreal PQ H3A 2T5 Canada;

Univ Montreal CHU Ste Justine Ctr Rech Montreal PQ Canada;

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正文语种 eng
中图分类医学遗传学;
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1. Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome (vol 35, pg 1285, 2014) [J] . Schwartzentruber Jeremy, Buhas Daniela, Majewski Jacek, Human mutation . 2015,第Pta2期

机译：白内障，身材矮小，部分感音神经性耳聋，周围神经病变或伴有Leigh综合征的白内障，生长激素缺乏症患者的核编码线粒体异丁酰tRNA合成酶IARS2突变（第35卷，第1285页，2014年）
2. Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome (vol 35, pg 1285, 2014) [J] . Schwartzentruber Jeremy, Buhas Daniela, Majewski Jacek, Human mutation . 2015,第Pta2期

机译：白内障核编码的线粒体异形硅胶-TRNA合成酶IARS2中的突变，生长激素缺乏短地形，部分感觉耳聋和外周神经病或与Leigh综合征（Vol 35，PG 1285,2014）
3. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. [J] . Jeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, Human mutation . 2014,第11期

机译：白内障，身材矮小，部分感音神经性耳聋，周围神经病或患有Leigh综合征的白内障，生长激素缺乏症患者的核编码线粒体异亮氨酰-tRNA合成酶IARS2突变。
4. Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism [O] . Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, 1960

机译：隐性VARS2突变是癫痫，智力低下，身材矮小，生长激素缺乏和性腺功能减退的新型综合征的基础
5. Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism [O] . Alsemari Abdulaziz, Al-Younes Banan, Goljan Ewa, 2017

机译：隐性VARS2突变是癫痫，智力低下，身材矮小，生长激素缺乏和性腺功能减退的新型综合征的基础

Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome (vol 35, pg 1285, 2014)

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