Novel De Novo Mutations in EFTUD2 Detected by Exome Sequencing in Mandibulofacial Dysostosis with Microcephaly Syndrome

Sarkar Arindam; Emrick Lisa T.; Smith Eboni M.; Austin Elise G.; Yang Yaping; Hunter Jill V.; Scaglia Fernando; Lalani Seema R.

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Novel De Novo Mutations in EFTUD2 Detected by Exome Sequencing in Mandibulofacial Dysostosis with Microcephaly Syndrome

机译：通过外显子测序检测下颌面部发育不全合并小头畸形的EFTUD2中的新型从头突变。

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《American journal of medical genetics, Part A》 |2015年第4期|共5页
作者
Sarkar Arindam; Emrick Lisa T.; Smith Eboni M.; Austin Elise G.; Yang Yaping; Hunter Jill V.; Scaglia Fernando; Lalani Seema R.;
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正文语种 eng
中图分类医学遗传学;
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1. Novel De Novo Mutations in EFTUD2 Detected by Exome Sequencing in Mandibulofacial Dysostosis with Microcephaly Syndrome [J] . Sarkar Arindam, Emrick Lisa T., Smith Eboni M., American journal of medical genetics, Part A . 2015,第4期

机译：通过外显子测序检测下颌面部发育不全合并小头畸形的EFTUD2中的新型从头突变。
2. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly [J] . The American Journal of Human Genetics . 2012,第2期

机译：EFTUD2编码的剪接体GTP酶的单倍剂量不足会导致下颌面肌营养不良伴小头畸形
3. Mandibulofacial Dysostosis (Treacher Collins Syndrome) novel de novo mutation in TCOF1 [J] . Martins Marcia, Botelho Pedro, Souto Marta, Medicine. . 2016,第10期

机译：下颌面发育不全（Treacher Collins综合征）TCOF1中的新的从头突变。
4. A Bioinformatics Procedure to Identify and Annotate Somatic Mutations in Whole-Exome Sequencing Data [C] . Roberta Spinelli, Rocco Piazza, Alessandra Pirola, International meeting on computational intelligence methods for bioinformatics and biostatistics . 2012

机译：在整个外显子组测序数据中识别和注释体细胞突变的生物信息学程序
5. Yeast Models for the Craniofacial Disorders Mandibulofacial Dysostosis Guion Almeida Type and Burn McKeown Syndrome [D] . Tandiono, Moses. 2016

机译：颅面疾病下颌面部发育不良的酵母模型Guion Almeida类型和烧伤McKeown综合征
6. A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report [O] . Arthur Jacob, Jennifer Pasquier, Raphael Carapito, 2020

机译：EFTUD2中的DE Novo同义变体破坏了正常的剪接并导致MicroCephaly的Mangibulofacial脱蛋白：案例报告
7. A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report [O] . Arthur Jacob, Jennifer Pasquier, Raphael Carapito, 2020

机译：EFTUD2中的DE Novo同义变体破坏了正常的剪接，并导致MicroCephaly的Mangibulofacial脱蛋白：案例报告

Novel De Novo Mutations in EFTUD2 Detected by Exome Sequencing in Mandibulofacial Dysostosis with Microcephaly Syndrome

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