Literature DB >> 21488265

Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis.

E Vallespin1, A Avila-Fernandez, B Almoguera, C Velez-Monsalve, D Cantalapiedra, M Garcia-Hoyos, R Riveiro-Alvarez, J Aguirre-Lamban, A Bustamante-Aragones, M J Trujillo-Tiebas, C Ayuso.   

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Year:  2010        PMID： 21488265

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  2 in total

1.  Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Authors:  Donna S Mackay; Arundhati Dev Borman; Frans P M Cremers; Anthony T Moore; Robert K Koenekoop; Ruifang Sui; L Ingeborgh van den Born; Eliot L Berson; Louise A Ocaka; Alice E Davidson; John R Heckenlively; Kari Branham; Huanan Ren; Irma Lopez; Maleeha Maria; Maleeha Azam; Arjen Henkes; Ellen Blokland; Raheel Qamar; Andrew R Webster; Sten Andreasson; Elfride de Baere; Jean Bennett; Gerald J Chader; Wolfgang Berger; Irina Golovleva; Jacquie Greenberg; Anneke I den Hollander; Caroline C W Klaver; B Jeroen Klevering; Birgit Lorenz; Markus N Preising; Raj Ramsear; Lisa Roberts; Ronald Roepman; Klaus Rohrschneider; Bernd Wissinger
Journal:  Hum Mutat       Date:  2013-09-17       Impact factor: 4.878

2.  Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy.

Authors:  Xue Chen; Xunlun Sheng; Xiantao Sun; Yuxin Zhang; Chao Jiang; Huiping Li; Sijia Ding; Yani Liu; Wenzhou Liu; Zili Li; Chen Zhao
Journal:  Sci Rep       Date:  2016-04-12       Impact factor: 4.379
  2 in total

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