Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method. (Q43870675)

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8 December 2019

title

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

1 reference

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8 December 2019

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familial Mediterranean fever

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1

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8 December 2019

Valerie Delague

5

1 reference

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8 December 2019

author name string

N Salem

2

1 reference

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8 December 2019

E Chouery

3

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8 December 2019

M Rawashdeh

4

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8 December 2019

M Haffar

6

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8 December 2019

I Mansour

7

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8 December 2019

R Naman

8

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8 December 2019

G Lefranc

9

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8 December 2019

J Loiselet

10

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8 December 2019

A Mégarbané

11

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8 December 2019

publication date

1 January 2002

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8 December 2019

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8 December 2019

volume

61

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8 December 2019

issue

1

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8 December 2019

page(s)

71-73

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Familial Mediterranean fever. A survey of 470 cases and review of the literature

8 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.10114.X

A candidate gene for familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.10114.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.10114.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.10114.X

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.10114.X

MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.10114.X

Y688X, the first nonsense mutation in familial Mediterranean fever (FMF).

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.10114.X

Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.10114.X

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.10114.X

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.10114.X

The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.10114.X

Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.10114.X

Pyrin/marenostrin mutations in familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.10114.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Familial Mediterranean fever

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.10114.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1034/J.1399-0004.2002.10114.X

1 reference

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8 December 2019

1 reference