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

Jennefer N Kohler Kohei Omachi Vivek Charu Jeffery H Miner Vivek 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
electronic health record
intellectual disability
machine learning
wound healing
data analysis
tissue engineering