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Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.

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Title: Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.
Authors: Vergaro A; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Pankievic M; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic., Jedlickova J; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic., Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic., Vajter M; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Michaelides M; UCL Institute of Ophthalmology, University College London and Moorfields Eye Hospital, London EC1V 9EL, UK., Meliska M; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Nemec P; Department of Ophthalmology, First Faculty of Medicine and Military University Hospital Prague, 162 00 Prague, Czech Republic., Babincova D; Laboratory of Molecular Biology, AGEL, 741 01 Nový Jíčín, Czech Republic., Kousal B; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
Source: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 27; Vol. 25 (7). Date of Electronic Publication: 2024 Mar 27.
Publication Type: Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.
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  Data: <searchLink fieldCode="AU" term="%22Vergaro+A%22">Vergaro A</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Pankievic+M%22">Pankievic M</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Jedlickova+J%22">Jedlickova J</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Dudakova+L%22">Dudakova L</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Vajter+M%22">Vajter M</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Michaelides+M%22">Michaelides M</searchLink>; UCL Institute of Ophthalmology, University College London and Moorfields Eye Hospital, London EC1V 9EL, UK.<br /><searchLink fieldCode="AU" term="%22Meliska+M%22">Meliska M</searchLink>; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Nemec+P%22">Nemec P</searchLink>; Department of Ophthalmology, First Faculty of Medicine and Military University Hospital Prague, 162 00 Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Babincova+D%22">Babincova D</searchLink>; Laboratory of Molecular Biology, AGEL, 741 01 Nový Jíčín, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Kousal+B%22">Kousal B</searchLink>; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Liskova+P%22">Liskova P</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
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              Text: 2024 Mar 27
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