Evidence for the Pathogenicity of a CFH Variant in a Multigenerational Family with Cuticular Drusen.

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Title: Evidence for the Pathogenicity of a CFH Variant in a Multigenerational Family with Cuticular Drusen.
Authors: Preiksaitiene E; Life Sciences Center, Vilnius University, 10257 Vilnius, Lithuania.; Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, 03101 Vilnius, Lithuania.; Center for Medical Genetics, Vilnius University Hospital Santaros Klinikos, 08406 Vilnius, Lithuania., Gurskytė V; Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, 03101 Vilnius, Lithuania.; Center of Eye Diseases, Vilnius University Hospital Santaros Klinikos, 08406 Vilnius, Lithuania., Mikštienė V; Life Sciences Center, Vilnius University, 10257 Vilnius, Lithuania.; Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, 03101 Vilnius, Lithuania.; Center for Medical Genetics, Vilnius University Hospital Santaros Klinikos, 08406 Vilnius, Lithuania., Strupaitė-Šileikienė R; Life Sciences Center, Vilnius University, 10257 Vilnius, Lithuania.; Center of Eye Diseases, Vilnius University Hospital Santaros Klinikos, 08406 Vilnius, Lithuania.; Faculty of Medicine, Institute of Clinical Medicine, Vilnius University, 03101 Vilnius, Lithuania., Dzindzalieta R; Life Sciences Center, Vilnius University, 10257 Vilnius, Lithuania., Petraitytė G; Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, 03101 Vilnius, Lithuania.; Center for Medical Genetics, Vilnius University Hospital Santaros Klinikos, 08406 Vilnius, Lithuania., Dapkūnas J; Institute of Biotechnology, Life Sciences Center, Vilnius University, 10257 Vilnius, Lithuania., Vyčaitė E; Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, 03101 Vilnius, Lithuania., Karčiauskaitė D; Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, 03101 Vilnius, Lithuania., Černiauskas L; Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, 03101 Vilnius, Lithuania., Utkus A; Life Sciences Center, Vilnius University, 10257 Vilnius, Lithuania.; Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, 03101 Vilnius, Lithuania.; Center for Medical Genetics, Vilnius University Hospital Santaros Klinikos, 08406 Vilnius, Lithuania.
Source: Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2025 Sep 11; Vol. 61 (9). Date of Electronic Publication: 2025 Sep 11.
Publication Type: Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 9425208 Publication Model: Electronic Cited Medium: Internet ISSN: 1648-9144 (Electronic) Linking ISSN: 1010660X NLM ISO Abbreviation: Medicina (Kaunas) Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1648-9144
DOI:10.3390/medicina61091649