SPATA5 mutations identified by whole exome sequencing cause a novel autosomal recessive defect of mitochondrial morphogenesis characterized by microcephaly, intellectual disability, seizures, and hearing loss

Monaghan Kristin G.; Tanaka Akemi J.; Cho Megan T.; Milian Francisca; Juusola Jane; Retterer Kyle; Joshi Charuta; Niyazov Dmitriy; Garnica Adolfo; Gratz Edward; Deardorff Matthew; Wilkins Alisha; Ortiz-Gonzalez Xilma; Mathews Katherine; Panzer Karin; Brilstra Eva; van Gassen Koen L. I.; Volker-Touw Catharina M. L.; van Binsbergen Ellen; Sobreira Nara; Hamosh Ada; McKnight Dianalee; Chung Wendy K.

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SPATA5 mutations identified by whole exome sequencing cause a novel autosomal recessive defect of mitochondrial morphogenesis characterized by microcephaly, intellectual disability, seizures, and hearing loss

机译：通过全外显子组测序鉴定的SPATA5突变导致线粒体形态发生的新型常染色体隐性缺陷，其特征是小头畸形，智力障碍，癫痫发作和听力下降

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《Mitochondrion》 |2016年第null期|共2页
作者
Monaghan Kristin G.; Tanaka Akemi J.; Cho Megan T.; Milian Francisca; Juusola Jane; Retterer Kyle; Joshi Charuta; Niyazov Dmitriy; Garnica Adolfo; Gratz Edward; Deardorff Matthew; Wilkins Alisha; Ortiz-Gonzalez Xilma; Mathews Katherine; Panzer Karin; Brilstra Eva; van Gassen Koen L. I.; Volker-Touw Catharina M. L.; van Binsbergen Ellen; Sobreira Nara; Hamosh Ada; McKnight Dianalee; Chung Wendy K.;
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正文语种 eng
中图分类微生物学;
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1. SPATA5 mutations identified by whole exome sequencing cause a novel autosomal recessive defect of mitochondrial morphogenesis characterized by microcephaly, intellectual disability, seizures, and hearing loss [J] . Monaghan Kristin G., Tanaka Akemi J., Cho Megan T., Mitochondrion . 2016,第Null期

机译：通过全外显子组测序鉴定的SPATA5突变导致线粒体形态发生的新型常染色体隐性缺陷，其特征是小头畸形，智力障碍，癫痫发作和听力下降
2. Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families [J] . Hae-Mi Woo, Hong-Joon Park, Jeong-In Baek, BMC Medical Genetics . 2013,第1期

机译：全基因组测序确定MYO15A突变是韩国家庭常染色体隐性非综合征性听力损失的原因
3. Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing [J] . Xue Gao, Qing-yan Zhu, Yue-Shuai Song, Journal of Translational Medicine . 2013,第1期

机译：通过全外显子组测序鉴定常染色体隐性遗传性耳聋MYO15A基因的新型复合杂合突变
4. Mutations in SPATA5 Are Associated with Microcephaly Intellectual Disability Seizures and Hearing Loss [O] . Akemi J. Tanaka, Megan T. Cho, Francisca Millan, 2015

机译：SPATA5中的突变与小头畸形智力障碍癫痫发作和听力下降有关
5. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss [O] . Tanaka Akemi J., Cho Megan T., Millan Francisca, 2015

机译：SPATA5中的突变与小头畸形，智力障碍，癫痫发作和听力下降有关

SPATA5 mutations identified by whole exome sequencing cause a novel autosomal recessive defect of mitochondrial morphogenesis characterized by microcephaly, intellectual disability, seizures, and hearing loss

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