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Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration

IMPORTANCE: The PROM1 gene, commonly associated with cone-rod dystrophies, may have dominant or recessive phenotypes that influence disease onset and severity. OBJECTIVE: To characterize the clinical phenotype and molecular genetic variations in patients with PROM1 variants. DESIGN, SETTING, AND PAR...

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Detalles Bibliográficos
Autores principales:	Cehajic-Kapetanovic, Jasmina, Birtel, Johannes, McClements, Michelle E., Shanks, Morag E., Clouston, Penny, Downes, Susan M., Charbel Issa, Peter, MacLaren, Robert E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Medical Association 2019
Materias:	Original Investigation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6575153/ https://www.ncbi.nlm.nih.gov/pubmed/31199449 http://dx.doi.org/10.1001/jamanetworkopen.2019.5752

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