Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases

Finnish-type familial amyloidosis (FAF) is a rare hereditary systemic amyloidosis that mainly exhibits cranial neuropathy. We describe a Japanese family with FAF manifested predominantly as renal amyloidosis. The proband was a 42-year-old woman with a 21-year history of proteinuria due to renal amyl...

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Detalles Bibliográficos
Autores principales: Yamanaka, Shuichiro, Miyazaki, Yoichi, Kasai, Kenji, Ikeda, Shu-ichi, Kiuru-Enari, Sari, Hosoya, Tatsuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Original Contributions
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432447/
https://www.ncbi.nlm.nih.gov/pubmed/26019848
http://dx.doi.org/10.1093/ckj/sft007

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