Frontiers | Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome
Overview of the COL4A5 mutation identified in Family 3. (A) Pedigree... | Download Scientific Diagram
NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough - ScienceDirect
Genetics Overview | Alport Syndrome Foundation
Mutations in the COL4A5 collagen gene in Alport syndrome | Download Table
Sequence analysis of the COL4A5 gene in affected male (hemizygous... | Download Scientific Diagram
JCI - Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis | Journal of Human Genetics
COL4A5 Gene - GeneCards | CO4A5 Protein | CO4A5 Antibody
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 - GeneCards | CO4A5 Protein | CO4A5 Antibody
Fusion of the COL4A5 Gene With NR2F2-AS1 in a Hemangioma Carrying a t(X;15)(q22;q26) Chromosomal Translocation | Cancer Genomics & Proteomics
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
Frontiers | Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations | PLOS ONE
Aminoglycoside-induced premature termination codon readthrough of COL4A5 nonsense mutations that cause Alport syndrome | bioRxiv
Figure 19 from Alport syndrome. Molecular genetic aspects. | Semantic Scholar
A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome - Frontiers
Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome
mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing | Scientific Reports
Distribution of small mutations in 30 out of 51 exons of the COL4A5-gene. | Download Scientific Diagram
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
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome - Yamamura - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Alport Syndrome (Collagen IV-Related Nephropathies) | Hereditary Ocular Diseases
Alport syndrome X-linked. COL4A5 gene. | Download Scientific Diagram
