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A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay.
Lee, Kyu-Sun; Choi, Miri; Kwon, Dae-Woo; Kim, Doyoun; Choi, Jong-Moon; Kim, Ae-Kyeong; Ham, Youngwook; Han, Sang-Bae; Cho, Sungchan; Cheon, Chong Kun.
Affiliation
  • Lee KS; Bionanotechnology Research Center, Korea Research Institute of Bioscience and Biotechnology, 125 Gwahak-ro, Yuseong-gu, Daejeon, 34141, Republic of Korea.
  • Choi M; Department of Functional Genomics, KRIBB School of Bioscience, Korea University of Science and Technology, 217 Gajeong-ro, Gajeong-dong, Yuseong-gu, Daejeon, 34113, Republic of Korea.
  • Kwon DW; Natural Medicine Research Center, Korea Research Institute of Bioscience and Biotechnology, 30 Yeongudanji-ro, Ochang-eup, Cheongwon-gu, Cheongju-si, Chungbuk, 28116, Republic of Korea.
  • Kim D; College of Pharmacy, Chungbuk National University, 30-1 Yeonje-ri, Osong-eup, Heungduk-gu, Cheongju-si, Chungbuk, 28644, Republic of Korea.
  • Choi JM; Bionanotechnology Research Center, Korea Research Institute of Bioscience and Biotechnology, 125 Gwahak-ro, Yuseong-gu, Daejeon, 34141, Republic of Korea.
  • Kim AK; Department of Functional Genomics, KRIBB School of Bioscience, Korea University of Science and Technology, 217 Gajeong-ro, Gajeong-dong, Yuseong-gu, Daejeon, 34113, Republic of Korea.
  • Ham Y; Innovative Target Research Center, Korea Research Institute of Chemical Technology, 141 Gajeong-ro, Jang-dong, Yuseong-gu, Daejeon, 34114, Republic of Korea.
  • Han SB; Green Cross Genome, Green Cross Laboratories, 107 Ihyeon-ro 30 beon-gil, Giheung-gu, Yongin-si, Gyeonggi, 16924, Republic of Korea.
  • Cho S; Bionanotechnology Research Center, Korea Research Institute of Bioscience and Biotechnology, 125 Gwahak-ro, Yuseong-gu, Daejeon, 34141, Republic of Korea.
  • Cheon CK; Natural Medicine Research Center, Korea Research Institute of Bioscience and Biotechnology, 30 Yeongudanji-ro, Ochang-eup, Cheongwon-gu, Cheongju-si, Chungbuk, 28116, Republic of Korea.
Sci Rep ; 10(1): 9849, 2020 06 17.
Article in En | MEDLINE | ID: mdl-32555303
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein-Tyrosine Kinases / Developmental Disabilities / Protein Serine-Threonine Kinases / Heterozygote / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Female / Humans / Infant / Male Language: En Journal: Sci Rep Year: 2020 Document type: Article Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein-Tyrosine Kinases / Developmental Disabilities / Protein Serine-Threonine Kinases / Heterozygote / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Female / Humans / Infant / Male Language: En Journal: Sci Rep Year: 2020 Document type: Article Country of publication: Reino Unido