Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome

Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome

Abstract Background Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia caused by small vessel thrombosis, thrombocytopenia, and renal failure. The common cause of aHUS is a dysregulation in the alternative complement pathway. Mutations in n...

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Bibliographic Details
Main Authors: Soraya Gholizad-kolveiri, Nakysa Hooman, Rasoul Alizadeh, Rozita Hoseini, Hasan Otukesh, Saeed Talebi, Mansoureh Akouchekian
Format: Article
Language:English
Published: BMC 2020-08-01
Series:BMC Medical Genetics
Subjects:
Hemolytic-uremic syndrome
DGKE
Protein computational analysis
Whole exome sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-020-01097-9

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