(Q43972812)

28 November 2017

title

I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier? (English)

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28 November 2017

2

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28 November 2017

3

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28 November 2017

Anna Aldea

1

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28 November 2017

Josefa Rius

4

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28 November 2017

Montserrat Masó

5

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28 November 2017

Jordi Vives

6

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28 November 2017

Jordi Yagüe

7

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28 November 2017

publication date

1 August 2002

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28 November 2017

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28 November 2017

volume

20

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28 November 2017

issue

2

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28 November 2017

page(s)

148-150

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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.

28 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10103

The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10103

The genetic basis of autosomal dominant familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10103

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/10.1002%2FHUMU.10103

A candidate gene for familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10103

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/10.1002%2FHUMU.10103

Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10103

The spectrum of Familial Mediterranean Fever (FMF) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10103

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/10.1002%2FHUMU.10103

Influence of genotypes at SAA1 and SAA2 loci on the development and the length of latent period of secondary AA-amyloidosis in patients with rheumatoid arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10103

21 January 2018

Identifiers

DOI

10.1002/HUMU.10103

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28 November 2017

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