The emerging genetic diversity of hereditary spastic paraplegia in Korean patients

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 genet...

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Veröffentlicht in:	Genomics (San Diego, Calif.) Calif.), 2021-11, Vol.113 (6), p.4136-4148
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Asians Biotechnology & Applied Microbiology Exome Genetic variation Genetics & Heredity Hereditary spastic paraplegia Humans Life Sciences & Biomedicine Membrane Transport Proteins - genetics Mutation Rare disease Republic of Korea Science & Technology Spastic Paraplegia, Hereditary - diagnosis Spastic Paraplegia, Hereditary - genetics Spastin - genetics Whole-exome sequencing
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