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Article

[Successful application of preimplantation genetic testing combined with thirdgeneration sequencing for blocking hereditary spastic paraplegia].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University - 20 Nov 2024

Qi Q, Zhou Z, Ma J, Yao B, Chen L

Abstract excerpt

OBJECTIVE: We report a case of application of third-generation sequencing (TGS) combined with preimplantation genetic testing (PGT) for successful prevention of hereditary spastic paraplegia (HSP) caused by SPAST gene mutations and assess the value of PGT-M and TGS in managing hereditary spastic paraplegia. METHODS: A family affected by HSP underwent whole exon sequencing (WES), and a c.1699G>T mutation in the...

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Identifiers

PMID: 39623274
DOI: 10.12122/j.issn.1673-4254.2024.11.15
PMCID: PMC11605195

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