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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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Detalles Bibliográficos
Autores principales: Joo, Kwangsic, Seong, Moon-Woo, Park, Kyu Hyung, Park, Sung Sup, Woo, Se Joon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857773/
https://www.ncbi.nlm.nih.gov/pubmed/31814693