Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia

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作者： Park, Hyunwoong ^[1] ; Kang, Seong-Ho ^[2] ; Park, Seungman ^[3] ; Kim, So Yeon ^[4] ; Seo, Soo Hyun ^[5] ; Lee, Seung Jun ^[6] ; Lee, Jung Ae ^[7] ; Cho, Sung Im ; Sung, Jung-Joon ; Lee, Kwang-Woo ; Kim, Ji Yeon ; Park, Sung Sup ; Seong, Moon-Woo

作者单位： Natl Med Ctr, Dept Lab Med, Seoul, South Korea ^[1] Seoul Natl Univ Hosp, Biomed Res Inst, Seoul 110744, South Korea ^[2] Chosun Univ, Sch Med, Coll Med, Dept Lab Med, Gwang Ju, South Korea ^[3] Gyeongsang Natl Univ Hosp, Dept Lab Med, Gyeongsangnam Do, South Korea ^[4] Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South Korea ^[5] Green Cross Reference Lab, Yongin, Gyeonggi Do, South Korea ^[6] Seoul Natl Univ, Coll Med, Dept Neurol, Seoul Natl Univ Hosp, Seoul, South Korea ^[7]

关键词 Hereditary spastic paraplegia SPAST ATL1 Pathogenic variants Sequencing Gene

发布时间 2018-09-22

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