Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Leber Congenital Amaurosis and RPE65[original query] |
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Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis. Ophthalmic genetics 2008 Jun 29 (2): 73-8. Mamatha Gandra, Srilekha Sundaramurthy, Meenakshi Swaminathan, Kumaramanickavel Govindasa |
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 |
A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis. Chinese medical journal 2017 Nov 130 (22): 2709-2712. Liu Jing, Bu Ju |
Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population. Molecular vision 2019 4 25 204-214. Zhong Zilin, Rong Feng, Dai Yinghui, Yibulayin Alakezi, Zeng Lin, Liao Jian, Wang Liefeng, Huang Zhihua, Zhou Zhenping, Chen Jianj |
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. Ophthalmic genetics 2019 3 40 (2): 110-117. Glen W Bailey, Peterseim M Millicent W, Badilla Ramses, Znoyko Iya, Bourg Andre, Wilson Robert, Hardiman Gary, Wolff Daynna, Martinez Joaqu |
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. The British journal of ophthalmology 2019 10 104 (7): 932-937. Xu Ke, Xie Yue, Sun Tengyang, Zhang Xiaohui, Chen Chunjie, Li Ya |
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis. Molecular vision 2020 3 26 26-35. Surl Dongheon, Shin Saeam, Lee Seung-Tae, Choi Jong Rak, Lee Junwon, Byeon Suk Ho, Han Sueng-Han, Lim Hyun Taek, Han Ji |
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, Krawczy?ski Maciej Robe |
RPE65 c.393T>A, p.(Asn131Lys): Novel Sequence Variant Detected. Case reports in ophthalmological medicine 2022 4 2022 5710080. Bjeloš Mirjana, Buši? Mladen, ?uri? Ana, Bosnar Damir, Šari? Borna, Markovi? Leon, Elabjer Biljana Kuzmanovi?, Rak Benedi |
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- Page last updated:Apr 22, 2024
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