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Article

Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.

Journal of human genetics - 1 Oct 2023

Fukuda Hiromi, Mizuguchi Takeshi, Doi Hiroshi, Kameyama Shinichi, Kunii Misako, Joki Hideto, Takahashi Tatsuya, Komiya Hiroyasu, Sasaki Mei, Miyaji Yosuke, Ohori Sachiko, Koshimizu Eriko, Uchiyama Yuri, Tsuchida Naomi, Fujita Atsushi, Hamanaka Kohei, Misawa Kazuharu, Miyatake Satoko, Tanaka Fumiaki, Matsumoto Naomichi

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and weakness in the lower extremities. To date, a total of 88 types of SPG are known. To diagnose HSP, multiple technologies, including microarray, direct sequencing, multiplex ligation-dependent probe amplification, and short-read next-generation sequencing, are often chosen...

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Identifiers

PMID: 37308565
DOI: 10.1038/s10038-023-01170-0

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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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