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Clinical, Pathological, and Genetic Characteristics of Patients with Digenic Alport Syndrome

Overview
Journal Kidney360
Specialty Nephrology
Date 2024 Aug 13
PMID 39137047
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References
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Choi M, Anistan Y, Eckardt K, Gollasch M, Nickel P . Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations. Nephron. 2019; 141(3):213-218. DOI: 10.1159/000495764. View

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Alport A . HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS. Br Med J. 2010; 1(3454):504-6. PMC: 2454341. DOI: 10.1136/bmj.1.3454.504. View

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Kashtan C . Alport syndrome and thin glomerular basement membrane disease. J Am Soc Nephrol. 1998; 9(9):1736-50. DOI: 10.1681/ASN.V991736. View

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Savige J, Storey H, Watson E, Hertz J, Deltas C, Renieri A . Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. Eur J Hum Genet. 2021; 29(8):1186-1197. PMC: 8384871. DOI: 10.1038/s41431-021-00858-1. View