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Collagen IVa345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases.

Pokidysheva EN, Seeger H, Pedchenko V, Chetyrkin S, Bergmann C, Abrahamson D, Cui ZW, Delpire E, Fervenza FC, Fidler AL, Fogo AB, Gaspert A, Grohmann M, Gross O, Haddad G, Harris RC, Kashtan C, Kitching AR, Lorenzen JM, McAdoo S, Pusey CD, Segelmark M, Simmons A, Voziyan PA, Wagner T, W?thrich RP, Zhao MH, Boudko SP, Kistler AD, Hudson BG. Collagen IVa345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases. J Biol Chem. 2021 Jan-Jun; 296:100590.

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