Article
Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.
Kidney international - 1 May 2018
Kashtan Clifford E, Ding Jie, Garosi Guido, Heidet Laurence, Massella Laura, Nakanishi Koichi, Nozu Kandai, Renieri Alessandra, Rheault Michelle, Wang Fang, Gross Oliver
Abstract excerpt
Mutations in the genes COL4A3, COL4A4, and COL4A5 affect the synthesis, assembly, deposition, or function of the collagen IV α345 molecule, the major collagenous constituent of the mature mammalian glomerular basement membrane. These mutations are associated with a spectrum of nephropathy, from microscopic hematuria to progressive renal disease leading to ESRD, and with extrarenal manifestations such as...
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