SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASE

SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASE

Purpose of the study was to assess the spectrum of molecular genetic disorders and the variety of clinical forms in patients with Stargardt disease. Material and methods. 56 patients aged 15-44 years who had been diagnosed with Stargardt disease in a history or at the time of the examination were in...

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Bibliographic Details
Main Authors: N. L. Sheremet, I. G. Grushke, N. V. Zhorzholadze, I. A. Ronzina, A. A. Mikaelyan, S. A. Kurbatov, V. V. Kadyshev, K. I. Anoshkin, V. V. Strelnikov
Format: Article
Language:Russian
Published: Russian Academy of Sciences, Siberian Branch Publishing House 2019-02-01
Series:Сибирский научный медицинский журнал
Subjects:
abca4
elovl4
prom1
cngb3
stargardt disease
cone-rod dystrophy
mutation
high-performance parallel sequencing
Online Access:https://sibmed.elpub.ru/jour/article/view/69
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