1. Zhou, Xi, Wang, Jingjing, Mao, Jianhua, Ye, Qing. 2021. Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5. In Frontiers in medicine, 8, 766224. doi:10.3389/fmed.2021.766224. https://pubmed.ncbi.nlm.nih.gov/34778325/
2. Nozu, Kandai, Minamikawa, Shogo, Yamada, Shiro, Vorechovsky, Igor, Iijima, Kazumoto. 2017. Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. In Journal of human genetics, 62, 733-735. doi:10.1038/jhg.2017.28. https://pubmed.ncbi.nlm.nih.gov/28275241/
3. Ma, Jian-Bin, Bai, Ji-Yu, Zhang, Hai-Bao, He, Dalin, Guo, Peng. 2020. Downregulation of Collagen COL4A6 Is Associated with Prostate Cancer Progression and Metastasis. In Genetic testing and molecular biomarkers, 24, 399-408. doi:10.1089/gtmb.2020.0009. https://pubmed.ncbi.nlm.nih.gov/32551898/
4. Heiskari, N, Zhang, X, Zhou, J, Trembath, R, Tryggvason, K. . Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome. In Journal of the American Society of Nephrology : JASN, 7, 702-9. doi:. https://pubmed.ncbi.nlm.nih.gov/8738805/
5. Rost, Simone, Bach, Elisa, Neuner, Cordula, Müller, Clemens R, Kunstmann, Erdmute. 2013. Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. In European journal of human genetics : EJHG, 22, 208-15. doi:10.1038/ejhg.2013.108. https://pubmed.ncbi.nlm.nih.gov/23714752/