Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

BACKGROUND: Intellectual disability/developmental delay is a complex condition with extraordinary heterogeneity. A large proportion of patients lacks a specific diagnosis. Next generation sequencing, enabling identification of genetic variations in multiple genes, has become an efficient strategy fo...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:BMC Med Genet
Autori principali: Yan, Huifang, Shi, Zhen, Wu, Ye, Xiao, Jiangxi, Gu, Qiang, Yang, Yanling, Li, Ming, Gao, Kai, Chen, Yinyin, Yang, Xiaoping, Ji, Haoran, Cao, Binbin, Duan, Ruoyu, Jiang, Yuwu, Wang, Jingmin
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
Soggetti:
Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6518638/
https://ncbi.nlm.nih.gov/pubmed/31088393
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0794-y
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi