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Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family.
Lee, Byeonghyeon; Song, Ha Hyun; Kim, Ye-Ri; Kim, Jong-Heun; Cho, Seong Tae; Lee, Jeong Ho; Kim, Un-Kyung; Park, Jin-Sung.
Affiliation
  • Lee B; New Drug Development Center, Daegu-Gyeongbuk Medical Innovation Foundation (KMEDI-hub), Daegu, Republic of Korea.
  • Song HH; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Republic of Korea.
  • Kim YR; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea; Adcanced Bio-Resource Research Center, Kyungpook National University, Daegu, Republic of Korea.
  • Kim JH; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Republic of Korea; Preclinical Research Center, Daegu-Gyeongbuk Medical Innovation Fou
  • Cho ST; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Republic of Korea.
  • Lee JH; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Republic of Korea.
  • Kim UK; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Republic of Korea. Electronic address: kimuk@knu.ac.kr.
  • Park JS; Department of Neurology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea. Electronic address: neurojspark@gmail.com.
Gene ; 870: 147403, 2023 Jun 20.
Article in En | MEDLINE | ID: mdl-37001573
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Kinesins Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Country/Region as subject: Asia Language: En Journal: Gene Year: 2023 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Kinesins Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Country/Region as subject: Asia Language: En Journal: Gene Year: 2023 Document type: Article