A novel Asn344 deletion in the core domain of coagulation factor XIII a subunit: Its effects on protein structure and function

• Main Authors: Sasichai Kangsadalampai, Gareth Chelvanayagam, Rohan T. Baker, Pa Thai Yenchitsomanus, Parichat Pung-amritt, Chularatana Mahasandana, Philip G. Board
• Other Authors: Australian National University
• Format: Article
• Published: 2018
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/18504
• Institution: Mahidol University

In this study a previously undescribed 3 bp deletion, AAT1030-1032, in the factor XIII A subunit gene, has been detected in a Thai patient. The inframe deletion results in the translation of a factor XIII A subunit that lacks Asn344. This is the first inframe deletion to be identified in the factor...