Article

E148Q mutation: a disease-causing mutation or a sequence variant? Disease severity in specific ethnic groups of Familial Mediterranean Fever patients

2024-03-27

Abstract excerpt

<title>Abstract</title> <p>Aim: Evaluate clinical characteristics and disease severity in specific ethnic groups of FMF patients homozygous for the E148Q mutation, and examine the contribution of a single allele V726A mutation to disease severity. <h4>Methods:</h4> A retrospective cohort study included patients homozygous for the E148Q mutation. The Characteristics of FMF patients with E148Q/E148Q and E148Q/E148...

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Literature Corpus work: b5fc7cfc-8aa5-592a-bf8c-f6ffa8ff845c
DOI: 10.21203/rs.3.rs-3985838/v1

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