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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Bibliographic Details
Main Authors: Redeker, Egbert J.W., de Visser, Annette S.H., Bergen, Arthur A.B., Mannens, Marcel M.A.M.
Format: Artigo
Language:Inglês
Published: Molecular Vision 2008
Subjects:
Technical Brief
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2375324/
https://ncbi.nlm.nih.gov/pubmed/18483559
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