Epidemiologic, clinical and pathogenesis features of achromatopsia in the Russian population

Epidemiologic, clinical and pathogenesis features of achromatopsia in the Russian population

Achromatopsia (ACHM) is a rare autosomal recessive disease. Its mutation spectrum is well described in other populations, but the data on ACHM prevalence and features in Russia are insufficient. Purpose. To describe clinically and genetically the Russian cohort of AHCM for the potential use of targe...

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Bibliographic Details
Main Authors: M. E. Ivanova, I. V. Zolnikova, I. E. Khatsenko, V. V. Strelnikov, F. A. Konovalov, E. R. Lozier, M. A. Ampleeva, A. V. Antonets, I. V. Kanivets, K. V. Gorgisheli, D. S. Atarshchikov, D. V. Pyankov, S. A. Korostelev, E. B. Kuznetsova, D. Bar, L. M. Balashova, Zh. M. Salmasi
Format: Article
Language:Russian
Published: Real Time Ltd 2020-03-01
Series:Российский офтальмологический журнал
Subjects:
achromatopsia
achm
genes <i>cnga3</i>
<i>cngb3</i>
russian cohort
Online Access:https://roj.igb.ru/jour/article/view/378

Internet

https://roj.igb.ru/jour/article/view/378

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