Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Photophobia and GNAT2[original query] |
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. European journal of human genetics : EJHG 2005 Mar 13 (3): 302-8. Kohl Susanne, Varsanyi Balazs, Antunes Gesine Abadin, Baumann Britta, Hoyng Carel B, Jägle Herbert, Rosenberg Thomas, Kellner Ulrich, Lorenz Birgit, Salati Roberto, Jurklies Bernhard, Farkas Agnes, Andreasson Sten, Weleber Richard G, Jacobson Samuel G, Rudolph Günther, Castellan Claudio, Dollfus Helene, Legius Eric, Anastasi Mario, Bitoun Pierre, Lev Dorit, Sieving Paul A, Munier Francis L, Zrenner Eberhart, Sharpe Lindsay T, Cremers Frans P M, Wissinger Ber |
Novel CNGA3 mutations in Chinese patients with achromatopsia. The British journal of ophthalmology 2015 Apr 99 (4): 571-6. Liang Xiaofang, Dong Fangtian, Li Hui, Li Huajin, Yang Lizhu, Sui Ruifa |
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Human mutation 2019 5 40 (8): 1145-1155. Felden Julia, Baumann Britta, Ali Manir, Audo Isabelle, Ayuso Carmen, Bocquet Beatrice, Casteels Ingele, Garcia-Sandoval Blanca, Jacobson Samuel G, Jurklies Bernhard, Kellner Ulrich, Kessel Line, Lorenz Birgit, McKibbin Martin, Meunier Isabelle, de Ravel Thomy, Rosenberg Thomas, Rüther Klaus, Vadala Maria, Wissinger Bernd, Stingl Katarina, Kohl Susan |
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- Page last updated:Apr 22, 2024
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