The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene-Reference-Cited by-同舟云学术

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

Published:2019-03 Issue: Volume:199 Page:58-70
ISSN:0002-9394
Container-title:American Journal of Ophthalmology
language:en
Short-container-title:American Journal of Ophthalmology

Author:

Chung Daniel C.,Bertelsen Mette,Lorenz Birgit,Pennesi Mark E.,Leroy Bart P.,Hamel Christian P.,Pierce Eric,Sallum Juliana^ORCID,Larsen Michael,Stieger Knut,Preising Markus,Weleber Richard^ORCID,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.

Funder

Spark Therapeutics, Inc

Foundation Fighting Blindness

Research to Prevent Blindness

NIH

Publisher

Elsevier BV

Subject

Ophthalmology

Reference13 articles.

1. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations;Lorenz;Invest Ophthalmol Vis Sci,2000

2. A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation;Lorenz;Invest Ophthalmol Vis Sci,2008