Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients

Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative diseases characterized by progressive weakness and spasticity of lower limbs. To clarify the genetic spectrum and improve the diagnosis of HSP patients, targeted next-generation sequencing (NGS) was applied to detect t...

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Veröffentlicht in:	Journal of molecular medicine (Berlin, Germany) Germany), 2018-07, Vol.96 (7), p.701-712
Hauptverfasser:	Lu, Cong, Li, Li-Xi, Dong, Hai-Lin, Wei, Qiao, Liu, Zhi-Jun, Ni, Wang, Gitler, Aaron D., Wu, Zhi-Ying
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine Diagnosis Genetic screening Genetics Heat shock proteins Hereditary spastic paraplegia Human Genetics Internal Medicine Molecular Medicine Mutation Neurodegenerative diseases Original Article Paralysis Spasticity
Online-Zugang:	Volltext
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