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Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations

The aim of this study was to gain information about disease prevalence and to identify the responsible genes for inherited retinal dystrophies (IRD) in Japanese populations. Clinical and molecular evaluations were performed on 349 patients with IRD. For segregation analyses, 63 of their family membe...

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Vydáno v:J Ophthalmol
Hlavní autoři: Arai, Yuuki, Maeda, Akiko, Hirami, Yasuhiko, Ishigami, Chie, Kosugi, Shinji, Mandai, Michiko, Kurimoto, Yasuo, Takahashi, Masayo
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4487330/
https://ncbi.nlm.nih.gov/pubmed/26161267
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/819760
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