Article

A SPAST gene-related hereditary spastic paraplegia type 4 family: Identification by a novel mutation

2022-05-02

Abstract excerpt

<h4>Objective: </h4> The aim of this study was to confirm the disease causing of a family with hereditary spastic paraplegia. <h4>Methods:</h4> Detailed clinical characterization analysis was undertake in the HSP family, taking peripheral blood sample from the 9 subjects for the extraction of genomic DNA and the proband underwent next generation sequencing. Potentially causative variants were identified by Sanger...

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Literature Corpus work: 6b2920dc-5aa6-504f-b4fa-b6ddafe1da4e
DOI: 10.21203/rs.3.rs-1467334/v2

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