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Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. Journal Of Clinical Investigation 2018, 128: 4313-4328. PMID: 30179222, PMCID: PMC6159964, DOI: 10.1172/jci98688.

Peer-Reviewed Original Research

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2018

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

2013

Substrate and Inhibitor Specificity of the Type II p21-Activated Kinase, PAK6

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