![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/Articles/1059322/fgene-14-1059322-HTML/image_m/fgene-14-1059322-g004.jpg)
Frontiers | Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome
![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
![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](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12882-021-02585-7/MediaObjects/12882_2021_2585_Fig2_HTML.png)
A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series | BMC Nephrology | Full Text
![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 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](https://onlinelibrary.wiley.com/cms/asset/29ed7da3-e421-4eb4-8b4e-bb933bd1b240/mgg3653-toc-0001-m.jpg?trick=1696198231992)
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
![Overview of the COL4A5 mutation identified in Family 3. (A) Pedigree... | Download Scientific Diagram Overview of the COL4A5 mutation identified in Family 3. (A) Pedigree... | Download Scientific Diagram](https://www.researchgate.net/publication/268039064/figure/fig2/AS:273862751420437@1442305376311/Overview-of-the-COL4A5-mutation-identified-in-Family-3-A-Pedigree-for-family-3-A.png)
Overview of the COL4A5 mutation identified in Family 3. (A) Pedigree... | Download Scientific Diagram
![Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome - ScienceDirect Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S2468024920300292-gr1.jpg)
Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome - ScienceDirect
![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/Articles/1059322/fgene-14-1059322-HTML/image_m/fgene-14-1059322-g003.jpg)
Frontiers | Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome
![Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis | Journal of Human Genetics Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis | Journal of Human Genetics](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fjhg.2017.28/MediaObjects/10038_2017_Article_BFjhg201728_Fig1_HTML.jpg)
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis | Journal of Human Genetics
![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
![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/F8.large.jpg)
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 Genes | Free Full-Text | Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece](https://www.mdpi.com/genes/genes-13-02203/article_deploy/html/images/genes-13-02203-g001.png)
Genes | Free Full-Text | Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece
![Establishment of AS patient and COL4A5 gene mutation-corrected iPSCs... | Download Scientific Diagram Establishment of AS patient and COL4A5 gene mutation-corrected iPSCs... | Download Scientific Diagram](https://www.researchgate.net/publication/374263483/figure/fig1/AS:11431281194122384@1695958669221/Establishment-of-AS-patient-and-COL4A5-gene-mutation-corrected-iPSCs-and-generation-of.png)
Establishment of AS patient and COL4A5 gene mutation-corrected iPSCs... | Download Scientific Diagram
![Genes | Free Full-Text | Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece Genes | Free Full-Text | Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece](https://pub.mdpi-res.com/genes/genes-13-02203/article_deploy/html/images/genes-13-02203-g001-550.jpg?1669363920)
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 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
![Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome - Yamamura - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome - Yamamura - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/3d5675e2-96c9-4b19-ab5d-d586d7e1facc/mgg3883-toc-0001-m.jpg?trick=1703513427950)
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome - Yamamura - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
![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://www.mdpi.com/ijms/ijms-20-00519/article_deploy/html/images/ijms-20-00519-g001.png)
IJMS | Free Full-Text | Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis
![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 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](https://ars.els-cdn.com/content/image/1-s2.0-S0085253820314101-fx1.jpg)