Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype

Onen, Merve Ozkilinc; Onat, I, Umut; Ugurlu, Serdal; Timucin, Ahmet C.; Arslan, Devrim Oz; Everest, Elif; Ozdogan, Huri; Turanli, Eda Tahir

doi:10.1093/rheumatology/kead044

Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype

Date

2023

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10.1093/rheumatology/kead044

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WOS:000927133100001

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OXFORD UNIV PRESS

DOI

10.1093/rheumatology/kead044

Keywords

MEFV\\-negative , FMF , MKD\\-overlapping , PSTPIP1 , pyrin , inflammation

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https://openaccess.acibadem.edu.tr/handle/11443/6582

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Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype

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