Novel and Recurrent PITX3 Mutations in Belgian Families with Autosomal Dominant Congenital Cataract and Anterior Segment Dysgenesis Have Similar Phenotypic and Functional Characteristics.
Orphanet Journal of Rare Diseases（2014）
关键词
Cataract,Electrophoretic Mobility Shift Assay,Index Patient,Congenital Cataract,Transactivation Activity
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