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Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.
Lee, So-Hyun; Nam, Tai-Seung; Li, Wenting; Kim, Jung Ha; Yoon, Woong; Choi, Yoo-Duk; Kim, Kun-Hee; Cai, Hua; Kim, Min Jung; Kim, Changsoo; Choy, Hyon E; Kim, Nacksung; Chay, Kee Oh; Kim, Myeong-Kyu; Choi, Seok-Yong.
Affiliation
  • Lee SH; Department of Biomedical Sciences, Chonnam National University Medical School, Gwangju, Republic of Korea.
  • Nam TS; Center for Creative Biomedical Scientists at Chonnam National University, Gwangju, Republic of Korea.
  • Li W; Department of Neurology, Chonnam National University Medical School, Gwangju, Republic of Korea.
  • Kim JH; Department of Biomedical Sciences, Chonnam National University Medical School, Gwangju, Republic of Korea.
  • Yoon W; Department of Pharmacology, Chonnam National University Medical School, Gwangju, Republic of Korea.
  • Choi YD; Department of Radiology, Chonnam National University Medical School, Gwangju, Republic of Korea.
  • Kim KH; Department of Pathology, Chonnam National University Medical School, Gwangju, Republic of Korea.
  • Cai H; Department of Microbiology, Chonnam National University Medical School, Gwangju, Republic of Korea.
  • Kim MJ; Department of Biomedical Sciences, Chonnam National University Medical School, Gwangju, Republic of Korea.
  • Kim C; Department of Biological Sciences, Sookmyung Women's University, Seoul, Republic of Korea.
  • Choy HE; School of Biological Sciences and Technology, Chonnam National University, Gwangju, Republic of Korea.
  • Kim N; Department of Microbiology, Chonnam National University Medical School, Gwangju, Republic of Korea.
  • Chay KO; Department of Pharmacology, Chonnam National University Medical School, Gwangju, Republic of Korea.
  • Kim MK; Department of Biochemistry, Chonnam National University Medical School, Gwangju, Republic of Korea. kochay@chonnam.ac.kr.
  • Choi SY; Department of Neurology, Chonnam National University Medical School, Gwangju, Republic of Korea. mkkim@chonnam.ac.kr.
Sci Rep ; 7(1): 10222, 2017 08 31.
Article in En | MEDLINE | ID: mdl-28860541
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ataxia / Abnormalities, Multiple / Brain / Coloboma / Cholestasis / Liver Diseases / Membrane Proteins / Mutation Limits: Adult / Animals / Humans / 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: Ataxia / Abnormalities, Multiple / Brain / Coloboma / Cholestasis / Liver Diseases / Membrane Proteins / Mutation Limits: Adult / Animals / Humans / Male Language: En Journal: Sci Rep Year: 2017 Document type: Article Country of publication: United kingdom