Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes-Reference-Cited by-同舟云学术

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Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes

Published:2020-10-05 Issue:11 Volume:41 Page:1866-1870
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Eyal Ori¹²,Shinar Yael³,Pras Mordechai³⁴,Pras Elon¹⁴^ORCID

Affiliation:

1. The Danek Gertner Institute of Human Genetics Sheba Medical Center, Tel‐Hashomer Ramat Gan Israel

2. St George's, University of London MBBS Program at Sheba Medical Center Tel‐Hashomer Israel

3. FMF Clinic and the Heller Institute of Medical Science Sheba Medical Center, Tel‐Hashomer Ramat Gan Israel

4. Sackler School of Medicine Tel Aviv University Tel Aviv Israel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24090

Reference30 articles.

1. Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis

2. Clinical features and disease severity of Turkish FMF children carrying E148Q mutation

3. The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant?

4. Familial mediterranean fever with a singleMEFVmutation: Where is the second hit?

5. AA Amyloidosis: Mount Sinai Experience, 1997-2012

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1. The past 25 years in paediatric rheumatology: insights from monogenic diseases;Nature Reviews Rheumatology;2024-08-07

2. Impact of multiple MEFV variants of unknown significance on the diagnosis and clinical presentation of familial Mediterranean fever;Immunological Medicine;2024-05-23

3. Genetically transitional disease: conceptual understanding and applicability to rheumatic disease;Nature Reviews Rheumatology;2024-02-28

4. Implications of combined NOD2 and other gene mutations in autoinflammatory diseases;Frontiers in Immunology;2023-10-19

5. Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis;Rheumatology;2023-07-22

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