title: Identification of genetic defects responsible for EPPK in a four-generation Han Chinese pedigree using exome sequencing and Sanger sequencing.
design: A four-generation Han Chinese pedigree of 15 individuals was recruited at the Third Xiangya Hospital, Central South University, P.R. China. Peripheral blood samples and clinical data were obtained from 11 members of the pedigree, consisting of four individuals affected with EPPK and seven unaffected members.Exome sequencing and Sanger sequencing were used to discover the genetic defects responsible for EPPK in this pedigree.
identifiers.namespace: The third Xiangya hospital
identifiers.id: EPPK KRT9