A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis-Reference-Cited by-同舟云学术

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

Published:2018-06-30 Issue:1 Volume:15 Page:13-16
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Kim Da Hyun¹,Heo Sun Hee²,Seo Go Hun¹,Oh Arum¹,Kim Taeho²,Kim Gu-Hwan²,Yoon Young Hee³,Yoo Han-Wook¹²,Lee Beom Hee¹²^ORCID

Affiliation:

1. Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

2. Medical Genetics Center, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

3. Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

Funder

National Research Foundation of Korea(NRF)

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2018/015/JGM015-01-03.pdf

Reference13 articles.

1. A NEW CLASSIFICATION OF THE RETINOSCHISES

2. Sieving, PA, and Traboulsi, E (1998). Juvenile retinoschisis. Genetic diseases of the eye, Traboulsi, EI, ed. New York: Oxford University Press, pp. 347-55

3. X-linked retinoschisis: an update

4. The gene mutation in a Taiwanese family with X-linked retinoschisis

5. Li, X, Ma, X, and Tao, Y (2007). Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. Mol Vis. <em>13</em>, 804-12.

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis;Annals of Laboratory Medicine;2019-01-28