Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome Sequencing

Dopa-responsive dystonia, a rare disorder typically presenting in early childhood with lower limb dystonia and gait abnormality, responds well to levodopa. However, it is often misdiagnosed with the wide spectrum of phenotypes. By exome sequencing, we make a rapid genetic diagnosis for two atypical...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Sun, Zhan-fang, Zhang, Yu-han, Guo, Ji-feng, Sun, Qi-ying, Mei, Jun-pu, Zhou, Han-lin, Guan, Li-ping, Tian, Jin-yong, Hu, Zheng-mao, Li, Jia-da, Xia, Kun, Yan, Xin-xiang, Tang, Bei-sha
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2014
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4152247/
https://ncbi.nlm.nih.gov/pubmed/25181484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0106388
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller