Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Retinal Dystrophies and RP1[original query] |
---|
A founder mutation in CERKL is a major cause of retinal dystrophy in Finland. Acta ophthalmologica 2017 10 96 (2): 183-191. Avela Kristiina, Sankila Eeva-Marja, Seitsonen Sanna, Kuuluvainen Liina, Barton Stephanie, Gillies Stuart, Aittomäki Kristii |
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa. Genetic testing and molecular biomarkers 2018 2 22 (2): 109-114. Li Shujin, Yang Mu, Liu Wenjing, Liu Yuqing, Zhang Lin, Yang Yeming, Sundaresan Periasamy, Yang Zhenglin, Zhu Xianj |
Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN. Journal of clinical medicine 2021 6 10 (11): . Mizobuchi Kei, Hayashi Takaaki, Oishi Noriko, Kubota Daiki, Kameya Shuhei, Higasa Koichiro, Futami Takuma, Kondo Hiroyuki, Hosono Katsuhiro, Kurata Kentaro, Hotta Yoshihiro, Yoshitake Kazutoshi, Iwata Takeshi, Matsuura Tomokazu, Nakano Tadas |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: