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Apolipoprotein CII Amyloidosis Associated With p.Lys41Thr Mutation

INTRODUCTION: Apolipoprotein CII amyloidosis (AApoCII) is a rare form of amyloidosis. Here, we report a novel mutation associated with AApoCII amyloidosis in 5 patients and describe their clinical, renal biopsy, and mass spectrometry findings. METHODS: Five patients with renal AApoCII p.Lys41Thr amy...

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Detalles Bibliográficos
Autores principales: Sethi, Sanjeev, Dasari, Surendra, Plaisier, Emmanuelle, Ronco, Pierre, Nasr, Samih H., Brocheriou, Isabelle, Theis, Jason D., Vrana, Julie A., Zimmermann, Michael T., Quint, Patrick S., McPhail, Ellen D., Kurtin, Paul J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127408/
https://www.ncbi.nlm.nih.gov/pubmed/30197986
http://dx.doi.org/10.1016/j.ekir.2018.04.009