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Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report.
Hayashi, Takaaki; Kondo, Hiroyuki; Matsushita, Itsuka; Mizobuchi, Kei; Baba, Akinori; Iida, Kie; Kubo, Hiroyuki; Nakano, Tadashi.
Afiliação
  • Hayashi T; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Tokyo, 105-8461, Japan. taka@jikei.ac.jp.
  • Kondo H; 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.
  • Matsushita I; Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Fukuoka, 807-8555, Japan.
  • Mizobuchi K; Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Fukuoka, 807-8555, Japan.
  • Baba A; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Tokyo, 105-8461, Japan.
  • Iida K; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Tokyo, 105-8461, Japan.
  • Kubo H; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Tokyo, 105-8461, Japan.
  • Nakano T; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Tokyo, 105-8461, Japan.
Doc Ophthalmol ; 143(3): 323-330, 2021 12.
Article em En | MEDLINE | ID: mdl-34037952

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Sistemas de Transporte de Aminoácidos Neutros / Fóvea Central / Nucleotídeos Tipo de estudo: Prognostic_studies Limite: Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Sistemas de Transporte de Aminoácidos Neutros / Fóvea Central / Nucleotídeos Tipo de estudo: Prognostic_studies Limite: Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article