Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy.

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Bibliographic Details
Title: Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy.
Authors: Bodenbender JP; University Eye Hospital, Center for Ophthalmology, Eberhard Karls University (J.P.B., L.B., K.S., L.K.), Tübingen, Germany., Bethge L; University Eye Hospital, Center for Ophthalmology, Eberhard Karls University (J.P.B., L.B., K.S., L.K.), Tübingen, Germany., Stingl K; University Eye Hospital, Center for Ophthalmology, Eberhard Karls University (J.P.B., L.B., K.S., L.K.), Tübingen, Germany., Mazzola P; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University (P.M., T.H.), Tübingen, Germany., Haack T; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University (P.M., T.H.), Tübingen, Germany; Center for Rare Diseases, Eberhard Karls University (T.H.), Tübingen, Germany., Biskup S; Praxis für Humangenetik (S.B.), Tübingen, Germany., Wissinger B; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, Eberhard Karls University (B.W., N.W., S.K.), Tübingen, Germany., Weisschuh N; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, Eberhard Karls University (B.W., N.W., S.K.), Tübingen, Germany., Kohl S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, Eberhard Karls University (B.W., N.W., S.K.), Tübingen, Germany., Kühlewein L; University Eye Hospital, Center for Ophthalmology, Eberhard Karls University (J.P.B., L.B., K.S., L.K.), Tübingen, Germany; Institute for Ophthalmic Research, Center for Ophthalmology, Eberhard Karls University (L.K.), Tübingen, Germany. Electronic address: laura.kuehlewein@med.uni-tuebingen.de.
Source: American journal of ophthalmology [Am J Ophthalmol] 2024 Nov; Vol. 267, pp. 213-229. Date of Electronic Publication: 2024 Jun 22.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1879-1891
DOI:10.1016/j.ajo.2024.06.020