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Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
Sothilingam, Vithiyanjali; Garcia Garrido, Marina; Jiao, Kangwei; Buena-Atienza, Elena; Sahaboglu, Ayse; Trifunovic, Dragana; Balendran, Sukirthini; Koepfli, Tanja; Mühlfriedel, Regine; Schön, Christian; Biel, Martin; Heckmann, Angelique; Beck, Susanne C; Michalakis, Stylianos; Wissinger, Bernd; Seeliger, Mathias W; Paquet-Durand, François.
Afiliação
  • Sothilingam V; Division of Ocular Neurodegeneration, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Schleichstr.4/3, Tuebingen 72076, Germany.
  • Garcia Garrido M; Division of Ocular Neurodegeneration, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Schleichstr.4/3, Tuebingen 72076, Germany.
  • Jiao K; Cell Death Mechanisms Group, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Roentgenweg 11, Tuebingen 72076, Germany, Second People's Hospital of Yunnan Province and Fourth Affiliated Hospital of Kunming Medical University, 176 Qingnian Road, Wuhua, Kunming, Yu
  • Buena-Atienza E; Molecular Genetics Laboratory, Centre for Ophthalmology, University Clinics Tuebingen, Roentgenweg 11, Tuebingen 72076, Germany.
  • Sahaboglu A; Cell Death Mechanisms Group, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Roentgenweg 11, Tuebingen 72076, Germany.
  • Trifunovic D; Cell Death Mechanisms Group, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Roentgenweg 11, Tuebingen 72076, Germany.
  • Balendran S; Molecular Genetics Laboratory, Centre for Ophthalmology, University Clinics Tuebingen, Roentgenweg 11, Tuebingen 72076, Germany.
  • Koepfli T; Molecular Genetics Laboratory, Centre for Ophthalmology, University Clinics Tuebingen, Roentgenweg 11, Tuebingen 72076, Germany.
  • Mühlfriedel R; Division of Ocular Neurodegeneration, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Schleichstr.4/3, Tuebingen 72076, Germany.
  • Schön C; Center for Integrated Protein Science Munich (CIPSM) at the Department of Pharmacy - Center for Drug Research, Ludwig-Maximilians-Universität München, Munich 81377, Germany and.
  • Biel M; Center for Integrated Protein Science Munich (CIPSM) at the Department of Pharmacy - Center for Drug Research, Ludwig-Maximilians-Universität München, Munich 81377, Germany and.
  • Heckmann A; GenOway, 181 Avenue Jean Jaures, Lyon 69362, France.
  • Beck SC; Division of Ocular Neurodegeneration, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Schleichstr.4/3, Tuebingen 72076, Germany.
  • Michalakis S; Center for Integrated Protein Science Munich (CIPSM) at the Department of Pharmacy - Center for Drug Research, Ludwig-Maximilians-Universität München, Munich 81377, Germany and.
  • Wissinger B; Molecular Genetics Laboratory, Centre for Ophthalmology, University Clinics Tuebingen, Roentgenweg 11, Tuebingen 72076, Germany.
  • Seeliger MW; Division of Ocular Neurodegeneration, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Schleichstr.4/3, Tuebingen 72076, Germany.
  • Paquet-Durand F; Cell Death Mechanisms Group, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Roentgenweg 11, Tuebingen 72076, Germany, francois.paquet-durand@klinikum.uni-tuebingen.de bernd.wissinger@uni-tuebingen.de mathias.seeliger@uni-tuebingen.de.
Hum Mol Genet ; 24(19): 5486-99, 2015 Oct 01.
Article em En | MEDLINE | ID: mdl-26188004
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Retinose Pigmentar / Mutação Puntual / Proteínas do Olho / Nucleotídeo Cíclico Fosfodiesterase do Tipo 6 Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Retinose Pigmentar / Mutação Puntual / Proteínas do Olho / Nucleotídeo Cíclico Fosfodiesterase do Tipo 6 Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article