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Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.
Sciezynska, Aneta; Ozieblo, Dominika; Ambroziak, Anna M; Korwin, Magdalena; Szulborski, Kamil; Krawczynski, Maciej; Stawinski, Piotr; Szaflik, Jerzy; Szaflik, Jacek P; Ploski, Rafal; Oldak, Monika.
Afiliación
  • Sciezynska A; Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland.
  • Ozieblo D; Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw/Kajetany, Poland.
  • Ambroziak AM; Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland; Faculty of Physics, University of Warsaw, Warsaw, Poland.
  • Korwin M; Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland.
  • Szulborski K; Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland.
  • Krawczynski M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; Center for Medical Genetics GENESIS, Poznan, Poland.
  • Stawinski P; Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw/Kajetany, Poland.
  • Szaflik J; Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland.
  • Szaflik JP; Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. Electronic address: rploski@wp.pl.
  • Oldak M; Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland; Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw/Kajetany, Poland. Electronic address: m.oldak@ifps.org.pl.
Exp Eye Res ; 145: 93-99, 2016 04.
Article en En | MEDLINE | ID: mdl-26593885
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN / Transportadoras de Casetes de Unión a ATP / Distrofias Retinianas / Mutación Tipo de estudio: Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Exp Eye Res Año: 2016 Tipo del documento: Article País de afiliación: Polonia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN / Transportadoras de Casetes de Unión a ATP / Distrofias Retinianas / Mutación Tipo de estudio: Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Exp Eye Res Año: 2016 Tipo del documento: Article País de afiliación: Polonia