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Choroideremia with Mutation in CHM Gene. Clinical Cases with Literature Review

The purpose: to describe clinical cases of choroideremia with mutation in CHM gene with molecular genetic verification of the diagnosis. Methods. Two relatives: a patient aged 33 and his mother’s sibs aged 39 with a rare hereditary retinal disease — choroideremia were examined. Patients’ full ophtha...

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Autori principali: I. V. Zolnikova, S. V. Milash, V. V. Kadyshev, A. B. Chernyak, D. V. Levina, R. A. Zinchenko, I. V. Egorova, E. A. Eremeeva, S. Y. Rogova
Natura: Artigo
Lingua:Russo
Pubblicazione: Ophthalmology Publishing Group 2019-03-01
Serie:Oftalʹmologiâ
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Accesso online:https://www.ophthalmojournal.com/opht/article/view/869
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