ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.

Zhou, Gao-Hui; Ma, Yue; Li, Meng-Lan; Zhou, Xin-Yi; Mou, Hao; Jin, Zi-Bing

ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.

Zhou, Gao-Hui; Ma, Yue; Li, Meng-Lan; Zhou, Xin-Yi; Mou, Hao; Jin, Zi-Bing.

Afiliación

Zhou GH; Lab for Stem Cell and Retinal Regeneration, Division of Ophthalmic Genetics, The Eye Hospital, National Center for International Research in Regenerative Medicine and Neurogenetics, Wenzhou Medical University, Wenzhou, 325027, China.
Ma Y; Lab for Stem Cell and Retinal Regeneration, Division of Ophthalmic Genetics, The Eye Hospital, National Center for International Research in Regenerative Medicine and Neurogenetics, Wenzhou Medical University, Wenzhou, 325027, China.
Li ML; Lab for Stem Cell and Retinal Regeneration, Division of Ophthalmic Genetics, The Eye Hospital, National Center for International Research in Regenerative Medicine and Neurogenetics, Wenzhou Medical University, Wenzhou, 325027, China.
Zhou XY; Lab for Stem Cell and Retinal Regeneration, Division of Ophthalmic Genetics, The Eye Hospital, National Center for International Research in Regenerative Medicine and Neurogenetics, Wenzhou Medical University, Wenzhou, 325027, China.
Mou H; Lab for Stem Cell and Retinal Regeneration, Division of Ophthalmic Genetics, The Eye Hospital, National Center for International Research in Regenerative Medicine and Neurogenetics, Wenzhou Medical University, Wenzhou, 325027, China.
Jin ZB; Lab for Stem Cell and Retinal Regeneration, Division of Ophthalmic Genetics, The Eye Hospital, National Center for International Research in Regenerative Medicine and Neurogenetics, Wenzhou Medical University, Wenzhou, 325027, China. jinzb@mail.eye.ac.cn.

Hum Genet ; 139(11): 1391-1401, 2020 Nov.

Article en En | MEDLINE | ID: mdl-32440726

Asunto(s)

Distrofias de Conos y Bastones/genética; Genes Dominantes/genética; Mutación/genética; ATPasa Intercambiadora de Sodio-Potasio/genética; Adulto; Animales; Línea Celular Tumoral; Electrorretinografía/métodos; Femenino; Células HeLa; Humanos; Masculino; Ratones; Linaje; Fenotipo; Retina/patología; Células Fotorreceptoras Retinianas Conos/patología; Degeneración Retiniana/genética; Células Fotorreceptoras Retinianas Bastones/patología; Retinitis Pigmentosa/genética; Agudeza Visual; Secuenciación del Exoma/métodos; Adulto Joven

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ATPasa Intercambiadora de Sodio-Potasio / Distrofias de Conos y Bastones / Genes Dominantes / Mutación Límite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: China

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