Article

Genetic, structural and clinical analysis of spastic paraplegia 4

2021-07-20

Abstract excerpt

<h4>Introduction</h4> Spastic paraplegia type 4 (SPG4), resulting from heterozygous mutations in the SPAST gene, is the most common form among the heterogeneous group of hereditary spastic paraplegias (HSPs). We aimed to study genetic and clinical characteristics of SPG4 across Canada. <h4>Methods</h4> The SPAST gene was analyzed in a total of 696 HSP patients from 431 families by either HSP-gene panel sequencing...

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Literature Corpus work: 2dbdf429-87a1-55d6-b7b9-3da35833b54c
DOI: 10.1101/2021.07.20.21259482

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