Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy

Occult macular dystrophy (OMD) is an inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. Typical OMD is characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluor...

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Hlavní autoři: Akahori, Masakazu, Tsunoda, Kazushige, Miyake, Yozo, Fukuda, Yoko, Ishiura, Hiroyuki, Tsuji, Shoji, Usui, Tomoaki, Hatase, Tetsuhisa, Nakamura, Makoto, Ohde, Hisao, Itabashi, Takeshi, Okamoto, Haru, Takada, Yuichiro, Iwata, Takeshi
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2933341/
https://ncbi.nlm.nih.gov/pubmed/20826268
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.08.009
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