HuGE Literature Finder
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Records 1-4
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Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
PloS one 2011 6 (8): e23021. Fahim Abigail T, Bowne Sara J, Sullivan Lori S, Webb Kaylie D, Williams Jessica T, Wheaton Dianna K, Birch David G, Daiger Stephen |
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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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Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
Investigative ophthalmology & visual science 2007 Sep 48 (9): 4284-90. Simonelli Francesca, Ziviello Carmela, Testa Francesco, Rossi Settimio, Fazzi Elisa, Bianchi Paolo Emilio, Fossarello Maurizio, Signorini Sabrina, Bertone Chiara, Galantuomo Silvana, Brancati Francesco, Valente Enza Maria, Ciccodicola Alfredo, Rinaldi Ernesto, Auricchio Alberto, Banfi Sand |
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Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
Molecular vision 2007 13 2160-2. Vallespin Elena, Lopez-Martinez Miguel-Angel, Cantalapiedra Diego, Riveiro-Alvarez Rosa, Aguirre-Lamban Jana, Avila-Fernandez Almudena, Villaverde Cristina, Trujillo-Tiebas Maria-Jose, Ayuso Carm |
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- Page last updated:Aug 22, 2019
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