HIGHLIGHTS
- who: Naonori Kumagai from the -year-old boy was referred to Fujita Health University have published the paper: A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report, in the Journal: (JOURNAL) of 13/04/2022
- how: After genetic counseling the authors obtained consent for genetic analysis from the patient's parents and the authors performed genetic analysis of COL4A3 COL4A4 and COL4A5 using next-generation sequencing.
SUMMARY
Received X-linked Alport syndrome before the onset of proteinuria owing to the identification of a novel variant in COL4A5 . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.