首页> 美国卫生研究院文献>Journal of Medical Genetics >A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome

【2h】

A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome

机译：复杂的缺失-转化-缺失事件导致嵌合的IL1RAPL1-肌营养不良蛋白转录物和连续的基因缺失综合征

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

著录项
相似文献
相关主题

著录项

期刊名称 Journal of Medical Genetics
作者
J Wheway; S Yau; V Nihalani; D Ellis; M Irving; M Splitt; R Roberts;
展开▼
作者单位

展开▼
年(卷),期 2003(40),2
年度 2003
页码 127–131
总页数 5
原文格式 PDF
正文语种
中图分类遗传学;
关键词

相似文献

外文文献
中文文献
专利

1. 5q14.3 Deletion Neurocutaneous Syndrome: Contiguous Gene Syndrome Caused by Simultaneous Deletion of RASA1 and MEF2C: A Progressive Disease [J] . Ilari Rita, Agosta Guillermo, Bacino Carlos American journal of medical genetics, Part A . 2016,第3期

机译：5q14.3删除神经皮肤综合症：RASA1和MEF2C同时删除引起的连续基因综合症：一种进行性疾病
2. Confirmation of 6q21-6q22.1 deletion in Acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome [J] . HudsonC., SchwankeC., JohnsonJ.P., American journal of medical genetics, Part A . 2014,第8期

机译：确认Acro-心血管面部综合征中6q21-6q22.1缺失并进一步描述该连续基因缺失综合征
3. Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome. [J] . IsmailN.F., NikAbdulMalikN.M., MohseniJ., Japanese journal of clinical oncology. . 2014,第5期

机译：马来西亚患有结节性硬化症和TSC2 / PKD1连续缺失综合征的患者中有两个新颖的TSC2总体缺失。
4. A novel framework for chimeric transcript detection based on accurate gene fusion model [C] . Abate Francesco, Acquaviva Andrea, Ficarra Elisa, 2011 IEEE International Conference on Bioinformatics and Biomedicine Workshops . 2011

机译：基于精确基因融合模型的嵌合体转录检测新框架
5. Chromosomal mapping of genes encoding human Pur-alpha and Pur-beta: Independent and simultaneous deletions in myelodysplastic syndromes and acute myelogenous leukemia. [D] . Lezon-Geyda, Kimberly Ann. 2001

机译：编码人Pur-alpha和Pur-beta的基因的染色体作图：骨髓增生异常综合症和急性骨髓性白血病的独立和同时缺失。
6. MON-917 Carney Complex Due to a Contiguous Gene Deletion Syndrome (17q24.2-17q24.3) [O] . Chelsi L Flippo, Fady Hannah-Shmouni, Constantine Stratakis 2020

机译：Mon-917 Carney Complex由于连续的基因缺失综合征（17Q24.2-17Q24.3）
7. A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome [O] . Wheway, J, Yau, S, Nihalani, V, 2003

机译：复杂的缺失-转化-缺失事件导致嵌合的IL1RAPL1-肌营养不良蛋白转录物和连续的基因缺失综合征

A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome

著录项

相似文献

相关主题

期刊订阅