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Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 07/2014, Volume 132, Issue 7, pp. 866 - 866
  X-linked retinitis pigmentosa is a severe inherited retinal degenerative disease with a frequency of 1 in 100 000 persons. Because no cure is available for... 
Clinical trials | Retina | Eye diseases | Ophthalmology | Fatty acids
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2009, Volume 84, Issue 6, pp. 792 - 800
Journal Article
Journal Article
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
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
Investigative Opthalmology & Visual Science, ISSN 1552-5783, 02/2016, Volume 57, Issue 2, p. 349
Journal Article
Molecular Vision, ISSN 1090-0535, 05/2008, Volume 14, Issue 109-10, pp. 922 - 927
Purpose: The purpose of this project was to determine if mutations, including large insertions or deletions, in the recently identified RP31 gene topoisomerase... 
OPHTHALMOLOGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | Humans | Middle Aged | Retinitis Pigmentosa - genetics | Male | Mutation - genetics | Genes, Dominant | DNA Mutational Analysis | Pedigree | Polymerase Chain Reaction | Adult | Female | Aged | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Ubiquitin-Protein Ligases - genetics | Index Medicus
Journal Article