Molecular defect of PKD1 gene resulting in abnormal RNA processing in a Thai family

• Main Authors: Nanyawan Rungroj, Kriengsak Vareesangthip, Prapon Wilairat, Wanna Thongnoppakhun, Chintana Sirinavin, Pa Thai Yenchitsomanus
• Other Authors: Mahidol University
• Format: Article
• Published: 2018
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/26720

Autosomal dominant polycystic kidney disease (ADPKD) is a common human autosomal disorder caused mainly by mutations of the PKD1 gene. In analysis of PKD1 transcripts by long RT-PCR and nested PCR procedures, we observed PKD1-cDNA fragments from three ADPKD siblings from the same family with a size...