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

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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
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  Data: Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy.
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  Data: <searchLink fieldCode="AU" term="%22Bodenbender+JP%22">Bodenbender JP</searchLink>; University Eye Hospital, Center for Ophthalmology, Eberhard Karls University (J.P.B., L.B., K.S., L.K.), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Bethge+L%22">Bethge L</searchLink>; University Eye Hospital, Center for Ophthalmology, Eberhard Karls University (J.P.B., L.B., K.S., L.K.), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Stingl+K%22">Stingl K</searchLink>; University Eye Hospital, Center for Ophthalmology, Eberhard Karls University (J.P.B., L.B., K.S., L.K.), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Mazzola+P%22">Mazzola P</searchLink>; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University (P.M., T.H.), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Haack+T%22">Haack T</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Biskup+S%22">Biskup S</searchLink>; Praxis für Humangenetik (S.B.), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Wissinger+B%22">Wissinger B</searchLink>; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, Eberhard Karls University (B.W., N.W., S.K.), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Weisschuh+N%22">Weisschuh N</searchLink>; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, Eberhard Karls University (B.W., N.W., S.K.), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kohl+S%22">Kohl S</searchLink>; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, Eberhard Karls University (B.W., N.W., S.K.), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kühlewein+L%22">Kühlewein L</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%220370500%22">American journal of ophthalmology</searchLink> [Am J Ophthalmol] 2024 Nov; Vol. 267, pp. 213-229. <i>Date of Electronic Publication: </i>2024 Jun 22.
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              Text: 2024 Nov
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