The clinical significance of heterozygous E148Q variant in patients with familial Mediterranean fever
Abdülvahhap Aktaş, Yousef Aljaber, Huda Avad, Döndü Ü Cansu, Cengiz Bal, Cengiz Korkmaz · 2026
Read The clinical significance of heterozygous E148Q variant in patients with familial Mediterranean fever by Abdülvahhap Aktaş, Yousef Aljaber, Huda Avad, Döndü Ü Cansu, Cengiz Bal, Cengiz Korkmaz (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13342405.txt.
Description
Abdülvahhap Aktaş and colleagues ask whether one mild gene variant changes the course of familial Mediterranean fever. The disease brings repeated fevers and belly pain, and its severity varies with the exact mutations a patient carries. The team compared 148 patients across four mutation groups.
People with two copies of the strong M694V variant fell ill earliest and scored worst. Those with a single copy of the milder E148Q variant looked much like single-copy M694V carriers. Fever, joint pain, and family history did not differ between groups. The results help doctors judge what a lone E148Q finding means for a patient.
Catalog record
| CREATOR | Abdülvahhap Aktaş, Yousef Aljaber, Huda Avad, Döndü Ü Cansu, Cengiz Bal, Cengiz Korkmaz |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 21 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |