Associated Papers
The Phenotypic Spectrum of COL4A3 Heterozygotes.
Solanki KV et al.
Kidney International Reports, 2023
37849993 (PubMed )
Supplement: mmc1.pdf
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
Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family.
Miao Y et al.
Clinical Science (london, England : 1979), 2017
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
Storey H et al.
Journal of the American Society of Nephrology : Jasn, 2013
Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.
Inoue Y et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 1999
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