Pilar Antón-Martín Cristina Aparicio López Soraya Ramiro-León Sonia Santillán Garzón Fernando Santos-Simarro Belén Gil-Fournier
10.2147/CBF.S23366
Clin Med Insights Pediatr
2012 Jun 28;6:41-9.
alport syndrome col4a5 gene x-linked inheritance de novo mutation lyonization
NO-CC CODE
https://pubmed.ncbi.nlm.nih.gov/23641165/
Case Reports
PMC3620815
23641165
Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine
2012