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MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy

In this issue of ckj, Tabibzadeh et al. report one of the largest series of patients with MYH9 mutations and kidney disease. The cardinal manifestation of MYH9-related disease is thrombocytopenia with giant platelets. The population frequency of pathogenic MYH9 mutations may be at least 1 in 20 000....

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Clin Kidney J
Hauptverfasser: Fernandez-Prado, Raul, Carriazo-Julio, Sol Maria, Torra, Roser, Ortiz, Alberto, Perez-Gomez, María Vanessa
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2019
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6671427/
https://ncbi.nlm.nih.gov/pubmed/31384439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ckj/sfz103
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