Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies

GUCA1A gene variants are associated with autosomal dominant (AD) cone dystrophy (COD) and cone-rod dystrophy (CORD). GUCA1A-associated AD-COD/CORD has never been reported in the Japanese population. The purpose of this study was to investigate clinical and genetic features of GUCA1A-associated AD-CO...

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Published in:Sci Rep
Main Authors: Mizobuchi, Kei, Hayashi, Takaaki, Katagiri, Satoshi, Yoshitake, Kazutoshi, Fujinami, Kaoru, Yang, Lizhu, Kuniyoshi, Kazuki, Shinoda, Kei, Machida, Shigeki, Kondo, Mineo, Ueno, Shinji, Terasaki, Hiroko, Matsuura, Tomokazu, Tsunoda, Kazushige, Iwata, Takeshi, Nakano, Tadashi
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2019
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6856191/
https://ncbi.nlm.nih.gov/pubmed/31728034
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-52660-1
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