Login / Signup

A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a Patient with Mild Alport Syndrome.

Jennefer N CarterKohei OmachiVivek CharuJeffery H MinerVivek Bhalla
Published in: Kidney360 (2022)
5(IV) N-terminus and subsequent trimer secretion. These data suggest that the COL4A4-G394S variant is pathogenic and causes an atypical mild form of autosomal recessive Alport syndrome.
Keyphrases
  • case report
  • intellectual disability
  • big data
  • machine learning