The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing

Purpose: To explore a method for the early, rapid and accurate diagnosis of Wolfram syndrome 1 (WS1) and further enrich the spectrum of WFS1 mutations in the Chinese population. Methods: We analyzed 279 patients with unexplained optic atrophy using next-generation sequencing. All patients underwent...

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Detalles Bibliográficos
Autores principales: Wang, Dan-Dan, Hu, Fang-Yuan, Gao, Feng-Juan, Zhang, Sheng-Hai, Xu, Ping, Tian, Guo-Hong, Wu, Ji-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6887651/
https://www.ncbi.nlm.nih.gov/pubmed/31850070
http://dx.doi.org/10.3389/fgene.2019.01217

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6887651/
https://www.ncbi.nlm.nih.gov/pubmed/31850070
http://dx.doi.org/10.3389/fgene.2019.01217

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