Profiling ofWDR36Missense Variants in German Patients with Glaucoma | Zendy

Francesca Pasutto | Zendy; Christian Y. Mardin | Zendy; Karin Michels-Rautenstrauss | Zendy; Bernhard H. F. Weber | Zendy; Heinrich Sticht | Zendy; Gabriela ChavarríaSoley | Zendy; Bernd Rautenstrauß | Zendy; Friedrich E. Kruse | Zendy; André Reis | Zendy

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Profiling ofWDR36Missense Variants in German Patients with Glaucoma

Author(s) -

Francesca Pasutto,

Christian Y. Mardin,

Karin Michels-Rautenstrauss,

Bernhard H. F. Weber,

Heinrich Sticht,

Gabriela ChavarríaSoley,

Bernd Rautenstrauß,

Friedrich E. Kruse,

André Reis

Publication year - 2008

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.07-0500

Subject(s) - glaucoma , missense mutation , nonsynonymous substitution , intraocular pressure , allele , medicine , ophthalmology , open angle glaucoma , allele frequency , population , minor allele frequency , genetics , biology , gene , mutation , environmental health , genome

Mutations in WDR36 were recently reported in patients with adult-onset primary open-angle glaucoma (POAG). In this study, the prevalence of WDR36 variants was investigated in patients with glaucoma who were of German descent with diverse age of onset and intraocular pressure levels.

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