Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry

Background: Spinal muscular atrophy (SMA) is the most common neurodegenerative disorder and the leading genetic cause of infant mortality. Early detection of SMA through newborn screening (NBS) is essential to selecting pre-symptomatic treatment and ensuring optimal outcome, as well as, prompting th...

Descripción completa

Detalles Bibliográficos
Autores principales: Lin, Yiming, Lin, Chien-Hsing, Yin, Xiaoshan, Zhu, Lin, Yang, Jianbin, Shen, Yuyan, Yang, Chiju, Chen, Xigui, Hu, Haili, Ma, Qingqing, Shi, Xueqin, Shen, Yaping, Hu, Zhenzhen, Huang, Chenggang, Huang, Xinwen
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/PMC6928056/
https://www.ncbi.nlm.nih.gov/pubmed/31921298
http://dx.doi.org/10.3389/fgene.2019.01255

Ejemplares similares

Ejemplares similares