Associated Papers
Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.
Halat-Wolska P et al.
Genes, 2025
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Gibson JT et al.
Scientific Reports, 2022
35177655 (PubMed )
Supplement: 41598_2022_6525_MOESM1_ESM.docx
A Split-Luciferase-Based Trimer Formation Assay as a High-throughput Screening Platform for Therapeutics in Alport Syndrome.
Omachi K et al.
Cell Chemical Biology, 2018
MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.
Hertz JM et al.
Clinical Genetics, 2008
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
Hertz JM et al.
Human Mutation, 2001
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