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Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review
We report a case of 47-year-old male with atypical hemolytic uremic syndrome (aHUS). He had low C3 levels and whole exome sequencing revealed heterozygous missense novel variation in exon 8 of the gene encoding complement factor B (CFB), leading to substitution of leucine for proline at codon 369 (c...
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| Publicado no: | Indian J Nephrol |
|---|---|
| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer - Medknow
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7699664/ https://ncbi.nlm.nih.gov/pubmed/33273796 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijn.IJN_265_19 |
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