Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Retinal Degeneration and ALMS1[original query] |
---|
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Human mutation 2007 Nov 28 (11): 1114-23. Marshall Jan D, Hinman Elizabeth G, Collin Gayle B, Beck Sebastian, Cerqueira Rita, Maffei Pietro, Milan Gabriella, Zhang Weidong, Wilson David I, Hearn Tom, Tavares Purificação, Vettor Roberto, Veronese Caterina, Martin Mitchell, So W Venus, Nishina Patsy M, Naggert Jürgen |
ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. Clinical genetics 2015 May . Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yin Y, Guo X, Wang J, Zhang |
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. Experimental eye research 2016 Mar . Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Xu Yan, Xin Wei, Guo Xiangming, Zhang Qingjio |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: