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Article

Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia.

Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2023

Chen Yi-Jun, Wang Meng-Wen, Qiu Yu-Sen, Yuan Ru-Ying, Wang Ning, Lin Xiang, Chen Wan-Jin

Abstract excerpt

OBJECTIVES: To diagnose the molecular cause of hereditary spastic paraplegia (HSP) observed in a four-generation family with autosomal dominant inheritance. METHODS: Multiplex ligation-dependent probe amplification (MLPA), whole-exome sequencing (WES), and RNA sequencing (RNA-seq) of peripheral blood leukocytes were performed. Reverse transcription polymerase chain reaction (RT-PCR) and Sanger sequencing were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37394769
DOI: 10.1002/mds.29522

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