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Article

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

Journal of molecular medicine (Berlin, Germany) - 1 Jul 2018

Lu Cong, Li Li-Xi, Dong Hai-Lin, Wei Qiao, Liu Zhi-Jun, Ni Wang, Gitler Aaron D, Wu Zhi-Ying

Abstract excerpt

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 the culprit genes in 55 Chinese HSP pedigrees. The classification of novel variants was based on the American College...

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Source

Identifiers

PMID: 29934652
DOI: 10.1007/s00109-018-1655-4

Genes

ATL1
SPAST
BSCL2
NIPA1

Variants

Provenance

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