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Article

Discovery of specific mutations in spinal muscular atrophy patients by next-generation sequencing.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 May 2021

Fang Yu-Lian, Li Na, Zhi Xiu-Fang, Zheng Jie, Liu Yang, Pu Lin-Jie, Gu Chun-Yu, Shu Jian-Bo, Cai Chun-Quan

Abstract excerpt

Spinal muscular atrophy (SMA) is a type of autosomal recessive genetic disease, which seriously threatens the health and lives of children and adolescents. We attempted to find some genes and mutations related to the onset of SMA. Eighty-three whole-blood samples were collected from 28 core families, including 28 probands with clinically suspected SMA (20 SMA patients, 5 non-SMA children, and 3 patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32895776
DOI: 10.1007/s10072-020-04697-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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