Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders

Mutations in the PAX6 gene have been implicated in aniridia, a congenital malformation of the eye with severe hypoplasia of the iris. However, not all aniridia cases can be explained by mutations in the PAX6 gene. The purpose of this study was to enhance the molecular diagnosis of aniridia using mul...

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Detalles Bibliográficos
Autores principales: Redeker, Egbert J.W., de Visser, Annette S.H., Bergen, Arthur A.B., Mannens, Marcel M.A.M.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Technical Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375324/
https://www.ncbi.nlm.nih.gov/pubmed/18483559

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