moronic Cerc de rulment spre exil col4a5 Cataractă Scaun Hotărâre
Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome - 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
Genes | Free Full-Text | Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss
Aminoglycoside-induced premature termination codon readthrough of COL4A5 nonsense mutations that cause Alport syndrome | bioRxiv
A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome - Kidney International Reports
The mutation features of the COL4A5 gene | Download Table
Overview of the COL4A5 mutation identified in Family 3. (A) Pedigree... | 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
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
Fusion of the COL4A5 Gene With NR2F2-AS1 in a Hemangioma Carrying a t(X;15)(q22;q26) Chromosomal Translocation | Cancer Genomics & Proteomics
A) Location of single base mutations in exon 48 of the COL4A5 gene in... | Download Scientific Diagram
Sequencing analysis of COL4A5 c.499delC (p.Pro167Gln f s * 36)... | Download Scientific Diagram
Identification of candidate COL4A5 and COL4A3 variants segregating with... | Download Scientific Diagram
Distribution of small mutations in 30 out of 51 exons of the COL4A5-gene. | Download Scientific Diagram
Collagen Type IV Alpha 5 (COL4A5) Antibody | Abbexa Ltd
Genotype–phenotype correlation in COL4A3 , COL4A4 and COL4A5 mutations.... | Download Scientific Diagram
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
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5 | Nature Communications
Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome | BMC Medical Genomics | Full Text
COL4A5 Gene - GeneCards | CO4A5 Protein | CO4A5 Antibody
Anti-COL4A5 antibody (ab231957) | Abcam
Metformin ameliorates the severity of experimental Alport syndrome | Scientific Reports