Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene-Reference-Cited by-同舟云学术

Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene

Published:2021-03-25 Issue:6 Volume:29 Page:965-976
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Barashkov Nikolay A.^ORCID,Konovalov Fedor A.,Borisova Tuyara V.,Teryutin Fedor M.,Solovyev Aisen V.,Pshennikova Vera G.,Sapojnikova Nadejda V.,Vychuzhina Lyubov S.,Romanov Georgii P.^ORCID,Gotovtsev Nyurgun N.,Morozov Igor V.^ORCID,Bondar Alexander A.^ORCID,Platonov Fedor A.,Burtseva Tatiana E.,Khusnutdinova Elza K.^ORCID,Posukh Olga L.,Fedorova Sardana A.

Funder

Russian Foundation for Basic Research

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-021-00833-w.pdf

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5. Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia E, et al. A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Investig Ophthalmol Vis Sci. 2000;41:3511–5.

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