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Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.
Bae, Kunho; Song, Ju Sun; Lee, Chung; Kim, Nayoung K D; Park, Woong Yang; Kim, Byoung Joon; Ki, Chang Seok; Kim, Sang Jin.
Affiliation
  • Bae K; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • Song JS; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • Lee C; Samsung Genome Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • Kim NKD; Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Korea.
  • Park WY; Samsung Genome Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • Kim BJ; Samsung Genome Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • Ki CS; Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • Kim SJ; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Ann Lab Med ; 37(5): 438-442, 2017 Sep.
Article in En | MEDLINE | ID: mdl-28643494
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Choroideremia / Adaptor Proteins, Signal Transducing Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Adult / Humans / Male / Middle aged Language: En Journal: Ann Lab Med Year: 2017 Document type: Article Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Choroideremia / Adaptor Proteins, Signal Transducing Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Adult / Humans / Male / Middle aged Language: En Journal: Ann Lab Med Year: 2017 Document type: Article Country of publication: