MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

M Stoffels; A Szperl; A Simon; MG Netea; TS Plantinga; M van Deuren; Sylvia Kamphuis; HJ Lachmann; E Cuppen; WP Kloosterman; J Frenkel; CC van Diemen; C Wijmenga; M van Gijn; JWM van der Meer

doi:10.1136/annrheumdis-2012-202580

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

M Stoffels, A Szperl, A Simon, MG Netea, TS Plantinga, M van Deuren, Sylvia Kamphuis, HJ Lachmann, E Cuppen, WP Kloosterman, J Frenkel, CC van Diemen, C Wijmenga, M van Gijn, JWM van der Meer

Pediatrics

Research output: Contribution to journal › Article › Academic › peer-review

98 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	455-461
Number of pages	7
Journal	Annals of the Rheumatic Diseases
Volume	73
Issue number	2
DOIs	https://doi.org/10.1136/annrheumdis-2012-202580
Publication status	Published - 2014

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EMC MM-04-54-08-A

Access to Document

10.1136/annrheumdis-2012-202580

http://hdl.handle.net/1765/74275

Cite this

Stoffels, M., Szperl, A., Simon, A., Netea, MG., Plantinga, TS., van Deuren, M., Kamphuis, S., Lachmann, HJ., Cuppen, E., Kloosterman, WP., Frenkel, J., van Diemen, CC., Wijmenga, C., van Gijn, M., & van der Meer, JWM. (2014). MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease. Annals of the Rheumatic Diseases, 73(2), 455-461. https://doi.org/10.1136/annrheumdis-2012-202580

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author = "M Stoffels and A Szperl and A Simon and MG Netea and TS Plantinga and {van Deuren}, M and Sylvia Kamphuis and HJ Lachmann and E Cuppen and WP Kloosterman and J Frenkel and {van Diemen}, CC and C Wijmenga and {van Gijn}, M and {van der Meer}, JWM",

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Stoffels, M, Szperl, A, Simon, A, Netea, MG, Plantinga, TS, van Deuren, M, Kamphuis, S, Lachmann, HJ, Cuppen, E, Kloosterman, WP, Frenkel, J, van Diemen, CC, Wijmenga, C, van Gijn, M & van der Meer, JWM 2014, 'MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease', Annals of the Rheumatic Diseases, vol. 73, no. 2, pp. 455-461. https://doi.org/10.1136/annrheumdis-2012-202580

TY - JOUR

T1 - MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

AU - Stoffels, M

AU - Szperl, A

AU - Simon, A

AU - Netea, MG

AU - Plantinga, TS

AU - van Deuren, M

AU - Kamphuis, Sylvia

AU - Lachmann, HJ

AU - Cuppen, E

AU - Kloosterman, WP

AU - Frenkel, J

AU - van Diemen, CC

AU - Wijmenga, C

AU - van Gijn, M

AU - van der Meer, JWM

PY - 2014

Y1 - 2014

U2 - 10.1136/annrheumdis-2012-202580

DO - 10.1136/annrheumdis-2012-202580

M3 - Article

C2 - 23505238

SN - 0003-4967

VL - 73

SP - 455

EP - 461

JO - Annals of the Rheumatic Diseases

JF - Annals of the Rheumatic Diseases

IS - 2

ER -