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A novel variant in FN1 in a family with fibronectin glomerulopathy
Glomerulopathy with fibronectin deposits (GFND) is a rare glomerular disorder. We report a 28-year-old male diagnosed with GFND by mass spectrometry on kidney biopsy tissue. Whole-exome sequencing (WES) identified that a previously undescribed FN1 gene mutation (c.3051G > T, p.W1017C) was likely...
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| Pubblicato in: | Hum Genome Var |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group UK
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6393538/ https://ncbi.nlm.nih.gov/pubmed/30820325 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0042-1 |
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