Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC-Reference-Cited by-同舟云学术

Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC

Published:2018-06-08 Issue:4 Volume:39 Page:517-521
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Zhang Nian¹,Wang Juan¹,Liu Shuting¹,Liu Mugen²,Jiang Fagang¹

Affiliation:

1. Department of Ophthalmology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, P.R. China

2. Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center of Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, P.R. China

Funder

Chinese National Natural Science Foundation

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2018.1479430

Reference13 articles.

1. Lentz J, Keats B. Usher syndrome type II. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2017. 1999 Published Dec 10 [Accessed Jul 21, 2016].

2. Clinical diagnosis of the Usher syndromes

3. Usher syndrome: molecular links of pathogenesis, proteins and pathways

4. An Update on the Genetics of Usher Syndrome

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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