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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2014
Pynciau:
Article
Mynediad Ar-lein: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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