Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.

Zou, Xuan; Li, Hui; Yang, Lizhu; Sun, Zixi; Yuan, Zhisheng; Li, Huajin; Sui, Ruifang

Zou, Xuan; Li, Hui; Yang, Lizhu; Sun, Zixi; Yuan, Zhisheng; Li, Huajin; Sui, Ruifang.

Afiliação

Zou X; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Li H; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Yang L; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Sun Z; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Yuan Z; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Li H; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Sui R; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

Sci Rep ; 7: 33713, 2017 02 17.

Article em En | MEDLINE | ID: mdl-28211458

Assuntos

Albinismo Ocular/genética; Albinismo Ocular/patologia; Proteínas do Olho/genética; Saúde da Família; Glicoproteínas de Membrana/genética; Povo Asiático; Análise Mutacional de DNA; Humanos; Reação em Cadeia da Polimerase; Polimorfismo de Nucleotídeo Único; Análise de Sequência de DNA

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Saúde da Família / Albinismo Ocular / Proteínas do Olho Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Sci Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: China

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