Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients

Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients

PurposeTo describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients.MethodsThis retrospective study included 132 subjects comprising 95 probands clinically diagnosed with STGD and relatives from 16 of them. Targeted next-generation sequencing of the...

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Bibliographic Details
Main Authors: Marcela D. Mena, Angélica A. Moresco, Sofía H. Vidal, Diana Aguilar-Cortes, María G. Obregon, Adriana C. Fandiño, Juan M. Sendoya, Andrea S. Llera, Osvaldo L. Podhajcer
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Genetics
Subjects:
Stargardt disease
next-generation sequencing – NGS
Latin America
mutation
ABCA4 gene
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.646058/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.646058/full

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