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
Genes | Free Full-Text | Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece
Frontiers | Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome
NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough - ScienceDirect
Identification of candidate COL4A5 and COL4A3 variants segregating with... | Download Scientific Diagram
Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome - ScienceDirect
Collagen alpha-5 (IV) (Col4a5) antibody - BiCell Scientific®
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5 | Nature Communications
Distribution of small mutations in 30 out of 51 exons of the COL4A5-gene. | Download Scientific Diagram
Collagen alpha-5 (IV) (Col4a5) antibody - BiCell Scientific®
Frontiers | Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene
Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome | BMC Medical Genomics | Full Text
Genes | Free Full-Text | Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss
Sequencing analysis of COL4A5 c.499delC (p.Pro167Gln f s * 36)... | 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
COL4A5 Gene - GeneCards | CO4A5 Protein | CO4A5 Antibody
The mutation features of the COL4A5 gene | Download Table
COL4a5 Antibody (ABIN7148257)
CJASN on X: "Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL4A4. This Review describes the expected clinical course of
Alport syndrome X-linked. COL4A5 gene. | Download Scientific Diagram
IJMS | Free Full-Text | Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis
Genotype–phenotype correlation in COL4A3 , COL4A4 and COL4A5 mutations.... | Download Scientific Diagram
