Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant

• Main Authors: Nicola Cavallari, Dario Balestra, Alessio Branchini, Iva Maestri, Ampaiwan Chuamsunrit, Werasak Sasanakul, Guglielmo Mariani, Franco Pagani, Francesco Bernardi, Mirko Pinotti
• Other Authors: University of Ferrara
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/13677
• Institution: Mahidol University

Changes at the invariable donor splice site +. 1 guanine, relatively frequent in human genetic disease, are predicted to abrogate correct splicing, and thus are classified as null mutations. However, their ability to direct residual expression, which might have pathophysiological implications in sev...