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Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea.
Yoon, Je Moon; Jang, Mi-Ae; Ki, Chang-Seok; Kim, Sang Jin.
Affiliation
  • Yoon JM; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • Jang MA; Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea.
  • Ki CS; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • Kim SJ; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. sangjinkim@skku.edu.
Ann Lab Med ; 36(2): 166-9, 2016 Mar.
Article in En | MEDLINE | ID: mdl-26709265

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthritis / Retinal Detachment / Connective Tissue Diseases / Collagen Type II / Asian People / Hearing Loss, Sensorineural Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Ann Lab Med Year: 2016 Document type: Article Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthritis / Retinal Detachment / Connective Tissue Diseases / Collagen Type II / Asian People / Hearing Loss, Sensorineural Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Ann Lab Med Year: 2016 Document type: Article Country of publication: