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JAMA Ophthalmology, ISSN 2168-6165, 05/2015, Volume 133, Issue 5, p. 511
  Screening for splice site mutation c.828+3A>T in the peripherin 2 (PRPH2) gene should be a high priority in families with highly variable retinal... 
Genetic disorders | Genes | Eye diseases | Mutation | Ophthalmology | Polymorphism
Journal Article
Journal Article
Human Genetics, ISSN 0340-6717, 3/2014, Volume 133, Issue 3, pp. 331 - 345
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 8, pp. e23021 - e23021
Journal Article
Ophthalmology, ISSN 0161-6420, 4/2015, Volume 122, Issue 4, pp. 833 - 839
Journal Article
Journal Article
Journal Article
JAMA OPHTHALMOLOGY, ISSN 2168-6165, 08/2018, Volume 136, Issue 8, pp. 849 - 856
IMPORTANCE There are no approved drug treatments for autosomal dominant retinitis pigmentosa, a relentlessly progressive cause of adult and childhood... 
FIELD FUNDUS AUTOFLUORESCENCE | DYSTROPHY | PERIMETRY | DOCOSAHEXAENOIC ACID | OPHTHALMOLOGY | RHODOPSIN MUTATIONS | PROGRESSION | Online First | Original Investigation | Research
Journal Article
Journal Article