![Distribution of small mutations in 30 out of 51 exons of the COL4A5-gene. | Download Scientific Diagram Distribution of small mutations in 30 out of 51 exons of the COL4A5-gene. | Download Scientific Diagram](https://www.researchgate.net/publication/11273052/figure/fig1/AS:601662674710528@1520458968027/Distribution-of-small-mutations-in-30-out-of-51-exons-of-the-COL4A5-gene.png)
Distribution of small mutations in 30 out of 51 exons of the COL4A5-gene. | Download Scientific Diagram
![Genotype–phenotype correlation in COL4A3 , COL4A4 and COL4A5 mutations.... | Download Scientific Diagram Genotype–phenotype correlation in COL4A3 , COL4A4 and COL4A5 mutations.... | Download Scientific Diagram](https://www.researchgate.net/publication/8428503/figure/fig1/AS:280798482714628@1443958983817/Genotype-phenotype-correlation-in-COL4A3-COL4A4-and-COL4A5-mutations-XLAS-X-linked.png)
Genotype–phenotype correlation in COL4A3 , COL4A4 and COL4A5 mutations.... | Download Scientific Diagram
![Identification of candidate COL4A5 and COL4A3 variants segregating with... | Download Scientific Diagram Identification of candidate COL4A5 and COL4A3 variants segregating with... | Download Scientific Diagram](https://www.researchgate.net/publication/317292736/figure/fig1/AS:559911767638018@1510504776515/Identification-of-candidate-COL4A5-and-COL4A3-variants-segregating-with-Alport-syndrome.png)
Identification of candidate COL4A5 and COL4A3 variants segregating with... | Download Scientific Diagram
![A) Location of single base mutations in exon 48 of the COL4A5 gene in... | Download Scientific Diagram A) Location of single base mutations in exon 48 of the COL4A5 gene in... | Download Scientific Diagram](https://www.researchgate.net/publication/14744683/figure/fig1/AS:601698057863194@1520467404799/A-Location-of-single-base-mutations-in-exon-48-of-the-COL4A5-gene-in-Utah-kindreds.png)
A) Location of single base mutations in exon 48 of the COL4A5 gene in... | Download Scientific Diagram
![New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells | European Journal of Human Genetics New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells | European Journal of Human Genetics](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41431-019-0537-8/MediaObjects/41431_2019_537_Fig1_HTML.png)
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells | European Journal of Human Genetics
![Aminoglycoside-induced premature termination codon readthrough of COL4A5 nonsense mutations that cause Alport syndrome | bioRxiv Aminoglycoside-induced premature termination codon readthrough of COL4A5 nonsense mutations that cause Alport syndrome | bioRxiv](https://www.biorxiv.org/content/biorxiv/early/2021/06/11/2021.06.11.448099/F1.large.jpg)
Aminoglycoside-induced premature termination codon readthrough of COL4A5 nonsense mutations that cause Alport syndrome | bioRxiv
![NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough - ScienceDirect NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S2589004222001614-fx1.jpg)
NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough - ScienceDirect
![Genes | Free Full-Text | Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss Genes | Free Full-Text | Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss](https://www.mdpi.com/genes/genes-11-00978/article_deploy/html/images/genes-11-00978-g002-550.jpg)
Genes | Free Full-Text | Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss
![Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome](https://www.spandidos-publications.com/article_images/br/13/2/br-13-02-01311-g00.jpg)
Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome
![Frontiers | Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene Frontiers | Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene](https://www.frontiersin.org/files/Articles/1177019/fped-11-1177019-HTML/image_m/fped-11-1177019-g001.jpg)
Frontiers | Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene
![Frontiers | Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome Frontiers | Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome](https://www.frontiersin.org/files/MyHome%20Article%20Library/1059322/1059322_Thumb_400.jpg)
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 NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S2589004222001614-gr1.jpg)
NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough - ScienceDirect
![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 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](https://www.ajkd.org/cms/asset/6f0e562d-00ca-42ec-9131-ae2c71daa3a6/gr1.jpg)
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
![Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5 | Nature Communications Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5 | Nature Communications](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fs41467-020-16605-x/MediaObjects/41467_2020_16605_Fig6_HTML.png)
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5 | Nature Communications
![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 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](https://pbs.twimg.com/media/FVO4084WQAAEjJc.jpg:large)
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
![A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome - Kidney International Reports A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome - Kidney International Reports](https://www.kireports.org/cms/asset/5e6d833b-886b-48f3-ae4a-3e4c990a1e24/fx1.jpg)
A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome - Kidney International Reports
![IJMS | Free Full-Text | Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis IJMS | Free Full-Text | Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis](https://pub.mdpi-res.com/ijms/ijms-20-00519/article_deploy/html/images/ijms-20-00519-g001.png?1571001920)
IJMS | Free Full-Text | Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis
![COL4A5 gene analysis in proband 2 (II-4 of family 2) and haplotypes... | Download Scientific Diagram COL4A5 gene analysis in proband 2 (II-4 of family 2) and haplotypes... | Download Scientific Diagram](https://www.researchgate.net/publication/354506378/figure/fig6/AS:1066720882073613@1631337485544/COL4A5-gene-analysis-in-proband-2-II-4-of-family-2-and-haplotypes-analysis-in-her.png)