Objective To identify the pathogenic gene mutations in two Chinese families with porokeratosis and analyze their relationship with clinical manifestation.Methods Clinical data of the two families with porokeratosis were collected and genomic DNA was extracted from peripheral blood leukocyte. By sequencing and analyzing the related gene with porokeratosis,the suspicious pathogenic gene was MVD gene. All the 13 coding exons and their flanking sequences of the MVD gene were subjected to PCR for amplifying and ...
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