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Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.
Cheon, Chong Kun; Lim, So-Hee; Kim, Yoo-Mi; Kim, Doyoun; Lee, Na-Yoon; Yoon, Tae-Sung; Kim, Nam-Soon; Kim, Eunjoon; Lee, Jae-Ran.
Affiliation
  • Cheon CK; Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea. chongkun@pusan.ac.kr.
  • Lim SH; Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea. chongkun@pusan.ac.kr.
  • Kim YM; Rare Disease Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, Korea.
  • Kim D; Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.
  • Lee NY; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.
  • Yoon TS; Rare Disease Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, Korea.
  • Kim NS; Rare Disease Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, Korea.
  • Kim E; Rare Disease Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, Korea.
  • Lee JR; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.
Sci Rep ; 7(1): 12527, 2017 10 02.
Article in En | MEDLINE | ID: mdl-28970574
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Kinesins / Genetic Predisposition to Disease / Intellectual Disability Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Sci Rep Year: 2017 Document type: Article Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Kinesins / Genetic Predisposition to Disease / Intellectual Disability Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Sci Rep Year: 2017 Document type: Article Country of publication: United kingdom