Gene mutation detection for a patient with anhidrotic ectodermal dysplasia / 实用口腔医学杂志

ABSTRACT

ObjetiveTo detect the gene mutation of a patient with anhidrotic ectodermal dysplasia. Methods: Genomic DNA was extracted from the peripheral blood of the patient and all the exon fragments were obtained by PCR. These fragments were sequenced directly. Results: In EDA gene a novel base transition was detected -48A→G. Conclusion: There is a new base transition in EDA gene in this patient