Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred

Familial Amyloidosis of Finnish type (FAF) is a rare type of autosomal dominant hereditary amyloidosis associated with genetic variants of gelsolin. Three amyloidogenic mutations have previously been reported characteristically presenting with ophthalmologic abnormalities, progressive cranial neurop...

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Bibliografiske detaljer
Main Authors: Efebera, Yvonne A., Sturm, Amy, Baack, Elizabeth C., Hofmeister, Craig C., Satoskar, Anjali, Nadasdy, Tibor, Nadasdy, Gyongyi, Benson, Don M., Gillmore, Julian D, Hawkins, Philip N, Rowczenio, Dorota
Format: Artigo
Sprog:Inglês
Udgivet: 2014
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4061150/
https://ncbi.nlm.nih.gov/pubmed/24601799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/13506129.2014.891502
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