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Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans

PURPOSE: This study was conducted to analyze the clinical features associated with the pathogenic variants of ABCA4 in Korean patients with inherited retinal dystrophies (IRDs). METHODS: We enrolled patients with IRDs who visited a tertiary referral hospital and identified the pathogenic variants of...

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Detalhes bibliográficos
Publicado no:Mol Vis
Main Authors: Joo, Kwangsic, Seong, Moon-Woo, Park, Kyu Hyung, Park, Sung Sup, Woo, Se Joon
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6857773/
https://ncbi.nlm.nih.gov/pubmed/31814693
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