A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

BACKGROUND: Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases. Rare mutations in a single gene or in copy nu...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Du, Xiaonan, An, Yu, Yu, Lifei, Liu, Renchao, Qin, Yanrong, Guo, Xiaohong, Sun, Daokan, Zhou, Shuizhen, Wu, Bailin, Jiang, Yong-hui, Wang, Yi
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2014
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4061518/
https://ncbi.nlm.nih.gov/pubmed/24885232
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-62
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