HuGE Literature Finder
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| Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). Orphanet journal of rare diseases 2020 Dec 15 (1): 345. Skorczyk-Werner Anna, Niedziela Zuzanna, Stopa Marcin, Krawczynski Maciej Robe |
| The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified. Acta ophthalmologica 2019 May . Avela Kristiina, Salonen-Kajander Riitta, Laitinen Arja, Ramsden Simon, Barton Stephanie, Rudanko Sirkka-Lii |
| Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. Scientific reports 2018 May 8 (1): 8279. Hosono Katsuhiro, Nishina Sachiko, Yokoi Tadashi, Katagiri Satoshi, Saitsu Hirotomo, Kurata Kentaro, Miyamichi Daisuke, Hikoya Akiko, Mizobuchi Kei, Nakano Tadashi, Minoshima Shinsei, Fukami Maki, Kondo Hiroyuki, Sato Miho, Hayashi Takaaki, Azuma Noriyuki, Hotta Yoshihi |
| Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2016 Nov 254 (11): 2227-2238. Wang Shiyuan, Zhang Qi, Zhang Xiang, Wang Zhaoyang, Zhao Peiqu |
| LCA5, a rare genetic cause of leber congenital amaurosis in Koreans. Ophthalmic genetics 2009 Mar 30 (1): 54-5. Seong Moon-Woo, Kim Seong Yeon, Yu Young Suk, Hwang Jeong-Min, Kim Ji Yeon, Park Sung S |
| Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. Molecular vision 2009 15 1781-7. Sundaresan Periasamy, Vijayalakshmi P, Thompson Stewart, Ko Audrey C, Fingert John H, Stone Edwin |
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