The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

• PURPOSE: To delineate the natural history of visual parameters over time in individuals with biallelic RPE65 mutation–associated inherited retinal dystrophy (IRD); describe the range of causative mutations; determine potential genotype/phenotype relationships; and describe the variety of clinical...

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Detaylı Bibliyografya
Yayımlandı:Am J Ophthalmol
Asıl Yazarlar: CHUNG, DANIEL C., BERTELSEN, METTE, LORENZ, BIRGIT, PENNESI, MARK E., LEROY, BART P., HAMEL, CHRISTIAN P., PIERCE, ERIC, SALLUM, JULIANA, LARSEN, MICHAEL, STIEGER, KNUT, PREISING, MARKUS, WELEBER, RICHARD, YANG, PAUL, PLACE, EMILY, LIU, EMILY, SCHAEFER, GRACE, DISTEFANO-PAPPAS, JULIE, ELCI, OKAN U., MCCAGUE, SARAH, WELLMAN, JENNIFER A., HIGH, KATHERINE A., REAPE, KATHLEEN Z.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2018
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6445969/
https://ncbi.nlm.nih.gov/pubmed/30268864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajo.2018.09.024
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