A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis-Reference-Cited by-同舟云学术

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A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis

Published:2019-01-28 Issue:1 Volume:39 Page:109-112
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Lee Eung Suk¹,Jang Mi-Ae²,Kim Hoon Dong¹,Park Jong Eun³,Kim Jong-Won³,Ohn Young-Hoon⁴^ORCID

Affiliation:

1. Department of Ophthalmology, Soonchunhyang University College of Medicine, Cheonan, Korea

2. Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea

3. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

4. Department of Ophthalmology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea

Funder

Soonchunhyang University

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2019.39.1.109

Reference10 articles.

1. X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms

2. X-linked Juvenile Retinoschisis (XLRS): A Review of Genotype-Phenotype Relationships

3. A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis

4. A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis

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