Familial Mediterranean fever and E148Q pyrin gene mutation in Greece (Q40514664)

21 September 2017

Familial Mediterranean fever and E148Q pyrin gene mutation in Greece (English)

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familial Mediterranean fever

21 September 2017

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4

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author name string

Kostas Konstantopoulos

1

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21 September 2017

Alexandra Kanta

2

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21 September 2017

Konstantinos Lilakos

3

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21 September 2017

Ioannis Meletis

5

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21 September 2017

1 January 2005

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International Journal of Hematology

21 September 2017

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21 September 2017

81

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21 September 2017

26-28

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21 September 2017

1

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https://scigraph.springernature.com/pub.10.1532/ijh97.e0422

21 September 2017

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cites work

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

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12 December 2020

Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method.

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12 December 2020

Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus

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12 December 2020

Familial Mediterranean fever: is low mortality from tuberculosis a specific advantage for MEFV mutations carriers? Mortality from tuberculosis among Muslims, Jewish, French, Italian and Maltese patients in Tunis (Tunisia) in the first half of the 20

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12 December 2020

Thoughts on the proposed links between Behçet's disease and familial Mediterranean fever

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12 December 2020

Diagnosis of familial Mediterranean fever by a molecular genetics method

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12 December 2020

Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients

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12 December 2020

Familial Mediterranean fever is no longer a rare disease in Italy

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12 December 2020

Familial Mediterranean fever associated pyrin mutations in Greece

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12 December 2020

Genotype-phenotype relation and correlation in familial mediterranean fever

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12 December 2020

The spectrum of Familial Mediterranean Fever (FMF) mutations

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12 December 2020

MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study

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12 December 2020

Clinical versus genetic diagnosis of familial Mediterranean fever

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12 December 2020

Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups

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12 December 2020

Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever

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12 December 2020

Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population

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12 December 2020

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.

1 reference

12 December 2020

E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever

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12 December 2020

Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin.

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12 December 2020

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

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12 December 2020

Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis

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12 December 2020

Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever

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12 December 2020

Familial Mediterranean fever

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12 December 2020

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

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12 December 2020

The MICA region determines the first modifier locus in familial Mediterranean fever

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12 December 2020

Identifiers

DOI

10.1532/IJH97.E0422

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Dimensions Publication ID

21 September 2017

1035090987

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Fatcat ID

release_kblye53tqjfntd2b54rhdz7yv4

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Fatcat

https://api.fatcat.wiki/v0/release/kblye53tqjfntd2b54rhdz7yv4

24 November 2022

mapped directly with Wikidata item

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