Sequencing analysis of COL4A5 c.499delC (p.Pro167Gln f s * 36)... | Download Scientific Diagram
Genes | Free Full-Text | Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece
Genotype–phenotype correlation in COL4A3 , COL4A4 and COL4A5 mutations.... | 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
A) Location of single base mutations in exon 48 of the COL4A5 gene in... | Download Scientific Diagram
Aminoglycoside-induced premature termination codon readthrough of COL4A5 nonsense mutations that cause Alport syndrome | bioRxiv
Genes | Free Full-Text | Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss
Overview of the COL4A5 mutation identified in Family 3. (A) Pedigree... | 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
Distribution of small mutations in 30 out of 51 exons of the COL4A5-gene. | Download Scientific Diagram
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
Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome | BMC Medical Genomics | Full Text
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