[A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia].

Kang, Yang; Yuan, Hui-ping; Li, Yuan-yuan

Kang, Yang; Yuan, Hui-ping; Li, Yuan-yuan.

Affiliation

Kang Y; Department of Ophthalmology, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, 150086 P. R. China.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 25(2): 172-5, 2008 Apr.

Article in Zh | MEDLINE | ID: mdl-18393239

Subject(s)

Aniridia/genetics; Eye Proteins/genetics; Homeodomain Proteins/genetics; Paired Box Transcription Factors/genetics; Repressor Proteins/genetics; Asian People; DNA Mutational Analysis; Exons/genetics; Female; Humans; Male; Mutation; PAX6 Transcription Factor; Pedigree; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Aniridia / Homeodomain Proteins / Paired Box Transcription Factors / Eye Proteins Type of study: Prognostic_studies Limits: Female / Humans / Male Language: Zh Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Journal subject: GENETICA MEDICA Year: 2008 Type: Article

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