A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus.

Cao, X; Zhou, X M; Gan, R; Jiang, L Q; Lu, L; Wang, Y; Fan, N; Yin, Y; Yan, N H; Yu, W H; Liu, X Y

Cao, X; Zhou, X M; Gan, R; Jiang, L Q; Lu, L; Wang, Y; Fan, N; Yin, Y; Yan, N H; Yu, W H; Liu, X Y.

Afiliación

Cao X; Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
Zhou XM; Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
Gan R; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
Jiang LQ; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
Lu L; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
Wang Y; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
Fan N; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
Yin Y; Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
Yan NH; Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
Yu WH; Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
Liu XY; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China xliu1213@126.com.

Genet Mol Res ; 13(4): 8679-85, 2014 Oct 27.

Article en En | MEDLINE | ID: mdl-25366758

Asunto(s)

Aniridia/genética; Proteínas del Ojo/genética; Proteínas de Homeodominio/genética; Mutación; Nistagmo Congénito/genética; Factores de Transcripción Paired Box/genética; Proteínas Represoras/genética; Adulto; Aniridia/complicaciones; Aniridia/diagnóstico; Catarata/complicaciones; Niño; Exones; Femenino; Humanos; Masculino; Nistagmo Congénito/complicaciones; Factor de Transcripción PAX6; Linaje; Gemelos

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Represoras / Aniridia / Proteínas de Homeodominio / Nistagmo Congénito / Factores de Transcripción Paired Box / Proteínas del Ojo / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Genet Mol Res Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2014 Tipo del documento: Article País de afiliación: China

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