Cargando…
Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: Identification of four novel mutations
PURPOSE: To analyze the paired box gene 6 (PAX6) in Korean patients with congenital aniridia. METHODS: Genomic DNA was isolated from peripheral blood leukocytes of 22 aniridia patients in 18 unrelated families. Polymerase chain reaction was performed for all 14 exons of PAX6 followed by bidirectiona...
Autores principales: | Park, Shin Hae, Kim, Man Soo, Chae, Hyojin, Kim, Yonggoo, Kim, Myungshin |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291524/ https://www.ncbi.nlm.nih.gov/pubmed/22393275 |
Ejemplares similares
-
Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations
por: Park, Shin Hae, et al.
Publicado: (2015) -
A nonsense PAX6 mutation in a family with congenital aniridia
por: Han, Kyoung Hee, et al.
Publicado: (2016) -
Clinical Features of Korean Patients with Congenital Aniridia
por: Park, Shin Hae, et al.
Publicado: (2010) -
Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia
por: Brémond-Gignac, Dominique, et al.
Publicado: (2010) -
Novel clinical presentation and PAX6 mutation in families with congenital aniridia
por: Guo, Ruru, et al.
Publicado: (2022)