Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in theDRAM2Gene
Author(s) -
Panagiotis I. Sergouniotis,
Martin McKibbin,
Anthony G. Robson,
Hanno J. Bolz,
Elfride De Baere,
Philipp L. Müller,
Raoul Heller,
Mohammed E. ElAsrag,
Kristof Van Schil,
Vincent Plagnol,
Carmel Toomes,
UK Inherited Retinal Disease Consortium,
Manir Ali,
Graham E. Holder,
Peter Charbel Issa,
Bart P. Leroy,
Chris F. Inglehearn,
Andrew R. Webster
Publication year - 2015
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.15-17604
Subject(s) - ophthalmology , medicine , fundus (uterus) , retinal , visual acuity , maculopathy , retinal degeneration , retina , electroretinography , asymptomatic , retinopathy , pathology , biology , neuroscience , diabetes mellitus , endocrinology
To determine the disease course of retinal dystrophy caused by recessive variants in the DRAM2 (damage-regulated autophagy modulator 2) gene.
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