COL4A5 Mutation Tied to XLAS Does Not Cause Disease, Study Suggests
A given mutation in the COL4A5 gene — the gene involved in X-linked Alport syndrome — is likely not a disease-causing (pathogenic) defect although it has been identified as such, a study from China reports. Its researchers suggest that the presence of this mutation, called c.2858G>T and common to people of…