Genomic organization of COL4A3–COL4A6 genes, and genetic forms of... | Download Scientific Diagram
Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation - ScienceDirect
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 Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss
A) Location of single base mutations in exon 48 of the COL4A5 gene in... | Download Scientific Diagram
Mutations Detected in the COL4A5 Gene by Direct Sequencing of Hair Root... | Download Table
New treatment method for Alport Syndrome uses | EurekAlert!
Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome - ScienceDirect
Novel Variant in COL4A5 Gene Associated with X-linked Alport Syndrome
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.
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 Mutations in XLAS Patients Help Predict Renal Outcome, Study Says
Fusion of the COL4A5 Gene With NR2F2-AS1 in a Hemangioma Carrying a t(X;15)(q22;q26) Chromosomal Translocation | Cancer Genomics & Proteomics
Genotype–phenotype correlation in COL4A3 , COL4A4 and COL4A5 mutations.... | Download Scientific Diagram
A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series | BMC Nephrology | Full Text
Frontiers | The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome
A novel frameshift mutation of COL4A5 in a Chinese family with presumed IgA nephropathy and chronic glomerulonephritis - Zhu - 2020 - Journal of Clinical Laboratory Analysis - Wiley Online Library
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
Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome
Aminoglycoside-induced premature termination codon readthrough of COL4A5 nonsense mutations that cause Alport syndrome | bioRxiv
Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing - ScienceDirect
NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough - ScienceDirect
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria | European Journal of Human Genetics
Alport Syndrome (Collagen IV-Related Nephropathies) | Hereditary Ocular Diseases
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
