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The emerging genetic diversity of hereditary spastic paraplegia in Korean patients.

Genomics - 1 Nov 2021

Yang Jin Ok, Yoon Ji-Yong, Sung Duk Hyun, Yun Sohyun, Lee Jeong-Ju, Jun Soo Young, Halder Debasish, Jeon Su-Jin, Woo Eui-Jeon, Seok Jin Myoung, Cho Jin Whan, Jang Ja-Hyun, Choi Jung Kyoon, Kim Byoung Joon, Kim Nam-Soon

Abstract excerpt

Hereditary Spastic Paraplegias (HSP) are a group of rare inherited neurological disorders characterized by progressive loss of corticospinal motor-tract function. Numerous patients with HSP remain undiagnosed despite screening for known genetic causes of HSP. Therefore, identification of novel genetic variations related to HSP is needed. In this study, we identified 88 genetic variants in 54 genes from...

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Asian People
Exome
Membrane Transport Proteins
Mutation
Republic of Korea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spastic Paraplegia, Hereditary

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PMID: 34715294
DOI: 10.1016/j.ygeno.2021.10.014

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