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Article

The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis.

Clinical genetics - 1 Sept 2017

Liu Z-J, Lin H-X, Liu G-L, Tao Q-Q, Ni W, Xiao B-G, Wu Z-Y

Abstract excerpt

Juvenile amyotrophic lateral sclerosis (JALS) occurs at an age of onset below 25 years with a heterogeneous disease onset location, variable progression and survival time. To investigate whether an ALS gene profile could resolve any aspects of clinical symptom heterogeneity, we have used targeted sequencing technology in a cohort of 12 JALS patients of Chinese descent. We detected 5 likely pathogenic mutations, 2...

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Source

Identifiers

PMID: 28429524
DOI: 10.1111/cge.13015

Genes

FUS
TARDBP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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