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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7699664/ https://www.ncbi.nlm.nih.gov/pubmed/33273796 http://dx.doi.org/10.4103/ijn.IJN_265_19 |