Associated Papers
Identification of novel COL4A5 variants and prenatal diagnosis in three large families.
Zeng B et al.
Scientific Reports, 2025
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.
Mastrangelo A et al.
Frontiers in Medicine, 2020
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.
Sen ES et al.
Journal of Medical Genetics, 2017
28780565 (PubMed )
Supplement: jmedgenet-2017-104811supp002.docx
Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.
Ma J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2011
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