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Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses.
Kutsuma, Tomoko; Katagiri, Satoshi; Hayashi, Takaaki; Yoshitake, Kazutoshi; Iejima, Daisuke; Gekka, Tamaki; Kohzaki, Kenichi; Mizobuchi, Kei; Baba, Yukari; Terauchi, Ryo; Matsuura, Tomokazu; Ueno, Shinji; Iwata, Takeshi; Nakano, Tadashi.
Afiliação
  • Kutsuma T; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
  • Katagiri S; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
  • Hayashi T; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan. taka@jikei.ac.jp.
  • Yoshitake K; Department of Ophthalmology, Katsushika Medical Center, The Jikei University School of Medicine, 6-41-2 Aoto, Katsushika-ku, Tokyo, 125-8506, Japan. taka@jikei.ac.jp.
  • Iejima D; National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Gekka T; National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Kohzaki K; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
  • Mizobuchi K; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
  • Baba Y; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
  • Terauchi R; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
  • Matsuura T; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
  • Ueno S; Department of Laboratory Medicine, The Jikei University School of Medicine, Tokyo, Japan.
  • Iwata T; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Nakano T; National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Doc Ophthalmol ; 138(3): 229-239, 2019 06.
Article em En | MEDLINE | ID: mdl-30877594
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Células Fotorreceptoras Retinianas Bastonetes / Canais de Potássio de Abertura Dependente da Tensão da Membrana Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Doc Ophthalmol Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Células Fotorreceptoras Retinianas Bastonetes / Canais de Potássio de Abertura Dependente da Tensão da Membrana Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Doc Ophthalmol Ano de publicação: 2019 Tipo de documento: Article