E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever (Q35555482)

8 August 2017

E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever (English)

1 reference

familial Mediterranean fever

8 August 2017

1 reference

R Topaloglu

1

1 reference

8 August 2017

F Ozaltin

2

1 reference

8 August 2017

E Yilmaz

3

1 reference

8 August 2017

S Ozen

4

1 reference

8 August 2017

B Balci

5

1 reference

8 August 2017

N Besbas

6

1 reference

8 August 2017

A Bakkaloglu

7

1 reference

8 August 2017

language of work or name

English

0 references

publication date

30 September 2004

1 reference

Annals of the Rheumatic Diseases

8 August 2017

1 reference

8 August 2017

64

1 reference

8 August 2017

5

1 reference

8 August 2017

750-752

1 reference

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

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

The spectrum of Familial Mediterranean Fever (FMF) mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

MEFV mutations in Behçet's disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

Familial Mediterranean fever: effects of genotype and ethnicity on inflammatory attacks and amyloidosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

Genotype-phenotype correlation in a large group of Turkish patients with familial mediterranean fever: evidence for mutation-independent amyloidosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

Criteria for the diagnosis of familial Mediterranean fever

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

A candidate gene for familial Mediterranean fever

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

Pyrin Q148 mutation and familial Mediterranean fever

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

E148Q of the MEFV gene causes amyloidosis in familial Mediterranean fever patients.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1755471

MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15458961

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15458961

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/ARD.2004.026963

1 reference

release_ezhpmgz2enf5dkki4xlztw6mn4

8 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ezhpmgz2enf5dkki4xlztw6mn4

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

1755471

1 reference

8 August 2017

1 reference