Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism

Affiliations

• ¹ Division of Maternal-Fetal Medicine, Affiliated Shenzhen Bao'an Women's and Children's Hospital, Jinan University, Shenzhen, Guangdong 518102, China.
• ² Department of Oncology, The First Affiliated Hospital of Jinan University, Jinan University, Guangzhou, Guangdong 510632, China.
• ³ Department of Biotechnology, Centre for Genetic Studies, School of Biotechnology and Biological Sciences, Maulana Abul Kalam Azad University of Technology (Formerly West Bengal University of Technology), Kolkata, West Bengal 700064, India.
• ⁴ Department of Genetics, College of Basic Medical Sciences, Jilin University, Changchun, Jilin 130021, China.