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...
Main Authors: | , |
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Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2020-01-01
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Series: | Indian Journal of Nephrology |
Subjects: | |
Online Access: | http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2020;volume=30;issue=4;spage=286;epage=289;aulast=Chhakchhuak |