机译:基因PDE6C PDE6C中的突变编码锥形感光体磷酸二磷酸酯酶的催化亚基,患者患者患者
Institute for Ophthalmic ResearchUniversity TuebingenTuebingen Germany;
Institute for Ophthalmic ResearchUniversity TuebingenTuebingen Germany;
Sorbonne UniversitésInstitut de la VisionParis France;
CeGaT GmbH and Praxis fuer Humangenetik TuebingenTuebingen Germany;
Institute for Neurosciences of Montpellier INSERM U1051University of MontpellierMontpellier France;
Department of Ophthalmology and Visual Sciences University of MichiganAnn Arbor Michigan;
Department of Clinical Sciences/OphthalmologyUniversity of UmeaUmea Sweden;
Center for Medical GeneticsGhent University and Ghent University HospitalGhent Belgium;
Department of OphthalmologyChildrens' Hospital Queen Fabiola (Huderf)Brussels Belgium;
Department of Medical Biosciences/Medical and Clinical GeneticsUniversity of UmeaUmea Sweden;
Department of Clinical GeneticsDublin Ireland;
Department of Ophthalmology and Visual Sciences University of MichiganAnn Arbor Michigan;
Center for Medical GeneticsGhent University and Ghent University HospitalGhent Belgium;
Institute for Neurosciences of Montpellier INSERM U1051University of MontpellierMontpellier France;
Cole Eye InstituteCleveland ClinicCleveland Ohio;
Institute for Ophthalmic ResearchUniversity TuebingenTuebingen Germany;
Institute for Ophthalmic ResearchUniversity TuebingenTuebingen Germany;
achromatopsia; cone phosphodiesterase; mutation spectrum and prevalence; PDE6C;
机译:基因PDE6C PDE6C中的突变编码锥形感光体磷酸二磷酸酯酶的催化亚基,患者患者患者
机译:生成衍生自PDE6C基因内携带新型纯合突变的不完全性致癌患者的诱导的多能干细胞系(FRIMOI007-A)
机译:cGMP磷酸二酯酶6alpha'亚基基因的突变导致斑马鱼视锥细胞感光细胞的逐步退化。
机译:伴有ABCR基因突变的视锥细胞营养不良(CRD)患者的视觉功能
机译:cGMP结合鸡锥感光磷酸二酯酶的分子决定因素。
机译:纯合定位揭示了早期发病的锥体感光细胞疾病患者的PDE6C突变。
机译:纯合定位揭示了早期发病的锥体感光细胞疾病患者的PDE6C突变。