UPF3B gene deletion in a patient with severe intellectual disability, epilepsy, absent speech: problematic of array-CGH coverage

被引:0
|
作者
Melo, J. B. [1 ,2 ,3 ]
Ferreira, S. I. [1 ,2 ]
Ramos, L. [4 ]
Pinto, M. [1 ]
Jardim, A. [1 ]
Carreira, I. M. [1 ,2 ,3 ]
机构
[1] Univ Coimbra, Fac Med, Lab Citogenet & Genom, Coimbra, Portugal
[2] Univ Coimbra, Fac Med, CIMAGO, iCBR, Coimbra, Portugal
[3] Univ Coimbra, IBILI, CNC, Coimbra, Portugal
[4] Ctr Hosp & Univ Coimbra, Hosp Pediat, Serv Genet Med, Coimbra, Portugal
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
E-P08.06
引用
收藏
页码:943 / 943
页数:1
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