Pathogenic variants in the genes affected in Alport syndrome (COL4A3–COL4A5) and their association with other kidney conditions: a review
Massively parallel sequencing identifies pathogenic variants in the genes affected in Alport
syndrome (COL4A3–COL4A5) in as many as 30% of individuals with focal and segmental …
syndrome (COL4A3–COL4A5) in as many as 30% of individuals with focal and segmental …
[HTML][HTML] Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
J Savige, H Storey, E Watson, JM Hertz… - European journal of …, 2021 - nature.com
Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …
[HTML][HTML] Molecular basis, diagnostic challenges and therapeutic approaches of alport syndrome: a primer for clinicians
R Martínez-Pulleiro, M García-Murias… - International journal of …, 2021 - mdpi.com
Alport syndrome is a genetic and hereditary disease, caused by mutations in the type IV
collagen genes COL4A3, COL4A4 and COL4A5, that affects the glomerular basement …
collagen genes COL4A3, COL4A4 and COL4A5, that affects the glomerular basement …
[HTML][HTML] Pathogenic LAMA5 variants and kidney disease
The manuscript by Nagano et al.(1) describes four children with the nephrotic syndrome and
biallelic pathogenic variants in LAMA5. Three of the children, each with two truncating …
biallelic pathogenic variants in LAMA5. Three of the children, each with two truncating …