A Novel CNGA1 Gene Mutation (c.G622A) of Autosomal Recessive Retinitis Pigmentosa Leads to the CNGA1 Protein Reduction on Membrane-Reference-Cited by-同舟云学术

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A Novel CNGA1 Gene Mutation (c.G622A) of Autosomal Recessive Retinitis Pigmentosa Leads to the CNGA1 Protein Reduction on Membrane

Published:2019-01-16 Issue:4 Volume:57 Page:540-554
ISSN:0006-2928
Container-title:Biochemical Genetics
language:en
Short-container-title:Biochem Genet

Author:

Gao Qing,Liu Yifan,Lei Xinlan,Deng Qinqin,Tong Yongqing,Du Lique,Shen Yin

Funder

The National Nature Science Foundation of China

International Science and Technology Cooperation Program of China

Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine,Ecology, Evolution, Behavior and Systematics,Biochemistry

Link

http://link.springer.com/article/10.1007/s10528-019-09907-3/fulltext.html

Reference29 articles.

1. Adzhubei IA et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249. https://doi.org/10.1038/nmeth0410-248

2. Biel M, Michalakis S (2009) Cyclic nucleotide-gated channels. Handb Exp Pharmacol. https://doi.org/10.1007/978-3-540-68964-5_7

3. Choi Y, Chan AP (2015) PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics 31:2745–2747. https://doi.org/10.1093/bioinformatics/btv195

4. Dias MF, Joo K, Kemp JA, Fialho SL, da Silva Cunha A, Jr., Woo SJ, Kwon YJ (2018) Molecular genetics and emerging therapies for retinitis pigmentosa: basic research and clinical perspectives. Prog Retin Eye Res 63:107–131. https://doi.org/10.1016/j.preteyeres.2017.10.004

5. Dryja TP, Finn JT, Peng YW, McGee TL, Berson EL, Yau KW (1995) Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci USA 92:10177–10181

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