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A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.
Jinda, Worapoj; Poungvarin, Naravat; Taylor, Todd D; Suzuki, Yutaka; Thongnoppakhun, Wanna; Limwongse, Chanin; Lertrit, Patcharee; Suriyaphol, Prapat; Atchaneeyasakul, La-Ongsri.
Afiliação
  • Jinda W; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Poungvarin N; Clinical Molecular Pathology Laboratory, Department of Clinical Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Taylor TD; Laboratory for Integrated Bioinformatics, Core for Precise Measuring and Modeling, RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa, Japan.
  • Suzuki Y; Department of Medical Genome Sciences, The University of Tokyo, Kashiwa, Chiba, Japan.
  • Thongnoppakhun W; Division of Molecular Genetics, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Limwongse C; Division of Molecular Genetics, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Division of Medical Genetics, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Lertrit P; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Suriyaphol P; Bioinformatics and Data Management for Research Unit, Office for Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Atchaneeyasakul LO; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Mol Vis ; 22: 342-51, 2016.
Article em En | MEDLINE | ID: mdl-27122965
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas Proto-Oncogênicas / Receptores Proteína Tirosina Quinases / Códon de Iniciação / Mutação de Sentido Incorreto Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas Proto-Oncogênicas / Receptores Proteína Tirosina Quinases / Códon de Iniciação / Mutação de Sentido Incorreto Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article