Novel Variants in COL4A3 and COL4A4 are Causes of Alport Syndrome in Rio Grande do Norte, Brazil | bioRxiv
A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series | BMC Nephrology | Full Text
A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series | BMC Nephrology | Full Text
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells | European Journal of Human Genetics
Genomic organization of COL4A3–COL4A6 genes, and genetic forms of... | Download Scientific Diagram
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations | PLOS ONE
COL4A5 Gene - GeneCards | CO4A5 Protein | CO4A5 Antibody
Novel Variant in COL4A5 Gene Associated with X-linked Alport Syndrome
Frontiers | The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome
Genes | Free Full-Text | Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece
Distribution of small mutations in 30 out of 51 exons of the COL4A5-gene. | Download Scientific Diagram
Mutations Detected in the COL4A5 Gene by Direct Sequencing of Hair Root... | Download Table
Genes | Free Full-Text | Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss
Genetics Overview | Alport Syndrome Foundation
Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife - ScienceDirect
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5 | Nature Communications
Frontiers | Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome
COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome
Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine - Pilar Antón-Martín, Cristina Aparicio López, Soraya Ramiro-León, Sonia Santillán Garzón, Fernando Santos-Simarro, Belén Gil-Fournier, 2012
Frontiers | Novel Therapies for Alport Syndrome
Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique - Zhao - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome
A novel frameshift mutation of COL4A5 in a Chinese family with presumed IgA nephropathy and chronic glomerulonephritis - Zhu - 2020 - Journal of Clinical Laboratory Analysis - Wiley Online Library
Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation - ScienceDirect
Fusion of the COL4A5 Gene With NR2F2-AS1 in a Hemangioma Carrying a t(X;15)(q22;q26) Chromosomal Translocation | Cancer Genomics & Proteomics
Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3–COL4A5) and Their Association With Other Kidney Conditions: A Review - American Journal of Kidney Diseases