טוען...
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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| Main Authors: | , , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2014
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| נושאים: | |
| גישה מקוונת: | 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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