Alport syndrome X-linked. COL4A5 gene. | Download Scientific Diagram
Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome - ScienceDirect
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations | PLOS ONE
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5 | Nature Communications
Frontiers | Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene
COL4A5 Gene - GeneCards | CO4A5 Protein | CO4A5 Antibody
Aminoglycoside-induced premature termination codon readthrough of COL4A5 nonsense mutations that cause Alport syndrome | bioRxiv
Genes | Free Full-Text | Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece
The mutation features of the COL4A5 gene | Download Table
A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series | BMC Nephrology | Full Text
COL4A5 Gene - GeneCards | CO4A5 Protein | CO4A5 Antibody
Establishment of AS patient and COL4A5 gene mutation-corrected iPSCs... | Download Scientific Diagram
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
Mutations in the COL4A5 collagen gene in Alport syndrome | Download Table
Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome - ScienceDirect
Aminoglycoside-induced premature termination codon readthrough of COL4A5 nonsense mutations that cause Alport syndrome | bioRxiv
Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome
Frontiers | The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis | Journal of Human Genetics
Alport Syndrome (Collagen IV-Related Nephropathies) | Hereditary Ocular Diseases
Frontiers | Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome
Genes | Free Full-Text | Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece
Genes | Free Full-Text | Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice
Genetics Overview | Alport Syndrome Foundation
