Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.

Mizobuchi, Kei; Hayashi, Takaaki; Yoshitake, Kazutoshi; Fujinami, Kaoru; Tachibana, Toshiaki; Tsunoda, Kazushige; Iwata, Takeshi; Nakano, Tadashi

Mizobuchi, Kei; Hayashi, Takaaki; Yoshitake, Kazutoshi; Fujinami, Kaoru; Tachibana, Toshiaki; Tsunoda, Kazushige; Iwata, Takeshi; Nakano, Tadashi.

Afiliación

Mizobuchi K; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Hayashi T; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Yoshitake K; Department of Ophthalmology, Katsushika Medical Center, The Jikei University School of Medicine, Tokyo, Japan.
Fujinami K; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Tachibana T; Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Tsunoda K; Core Research Facilities for Basic Science, Research Center for Medical Science, The Jikei University School of Medicine, Tokyo, Japan.
Iwata T; Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Nakano T; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.

Mol Genet Genomic Med ; 8(8): e1308, 2020 08.

Article en En | MEDLINE | ID: mdl-32441891

Asunto(s)

Linfocitos/ultraestructura; Glicoproteínas de Membrana/genética; Chaperonas Moleculares/genética; Lipofuscinosis Ceroideas Neuronales/genética; Fenotipo; Distrofias Retinianas/genética; Adulto; Homocigoto; Humanos; Lisosomas/ultraestructura; Masculino; Mutación Missense; Lipofuscinosis Ceroideas Neuronales/patología; Distrofias Retinianas/patología

Palabras clave

electroretinography; lysosomal storage disease; retina; transmission electron microscopy; whole-exome and genome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Glicoproteínas de Membrana / Linfocitos / Chaperonas Moleculares / Distrofias Retinianas / Lipofuscinosis Ceroideas Neuronales Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos

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