New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes

Catherine Dode; Nathalie Le Du; Laurence Cuisset; Frank Letourneur; Jean-Marie Berthelot; Gerard Vaudour; Alain Meyrier; Richard A. Watts; David G. I. Scott; Anne Nichols; Brigitte Granel; Camille Frances; Francois Garcier; Patrick Edery; Serge Boulinguez; Jean-Paul Domergues; Marc Delpech; Gilles Greateau

doi:10.1086/340786

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes

Catherine Dode, Nathalie Le Du, Laurence Cuisset, Frank Letourneur, Jean-Marie Berthelot, Gerard Vaudour, Alain Meyrier, Richard A. Watts, David G. I. Scott, Anne Nichols, Brigitte Granel, Camille Frances, Francois Garcier, Patrick Edery, Serge Boulinguez, Jean-Paul Domergues, Marc Delpech, Gilles Greateau

Research output: Contribution to journal › Article

276 Citations (Scopus)

Original language	English
Pages (from-to)	1498-1506
Number of pages	9
Journal	American Journal of Human Genetics
Volume	70
Issue number	6
DOIs	https://doi.org/10.1086/340786
Publication status	Published - 2002

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10.1086/340786

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Dode, C., Le Du, N., Cuisset, L., Letourneur, F., Berthelot, J-M., Vaudour, G., Meyrier, A., Watts, R. A., Scott, D. G. I., Nichols, A., Granel, B., Frances, C., Garcier, F., Edery, P., Boulinguez, S., Domergues, J-P., Delpech, M., & Greateau, G. (2002). New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes. American Journal of Human Genetics, 70(6), 1498-1506. https://doi.org/10.1086/340786

@article{28d17e454e5740a3bac8593211ea4c2e,

title = "New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes",

author = "Catherine Dode and {Le Du}, Nathalie and Laurence Cuisset and Frank Letourneur and Jean-Marie Berthelot and Gerard Vaudour and Alain Meyrier and Watts, {Richard A.} and Scott, {David G. I.} and Anne Nichols and Brigitte Granel and Camille Frances and Francois Garcier and Patrick Edery and Serge Boulinguez and Jean-Paul Domergues and Marc Delpech and Gilles Greateau",

year = "2002",

doi = "10.1086/340786",

language = "English",

volume = "70",

pages = "1498--1506",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "6",

}

Dode, C, Le Du, N, Cuisset, L, Letourneur, F, Berthelot, J-M, Vaudour, G, Meyrier, A, Watts, RA, Scott, DGI, Nichols, A, Granel, B, Frances, C, Garcier, F, Edery, P, Boulinguez, S, Domergues, J-P, Delpech, M & Greateau, G 2002, 'New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes', American Journal of Human Genetics, vol. 70, no. 6, pp. 1498-1506. https://doi.org/10.1086/340786

TY - JOUR

T1 - New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes

AU - Dode, Catherine

AU - Le Du, Nathalie

AU - Cuisset, Laurence

AU - Letourneur, Frank

AU - Berthelot, Jean-Marie

AU - Vaudour, Gerard

AU - Meyrier, Alain

AU - Watts, Richard A.

AU - Scott, David G. I.

AU - Nichols, Anne

AU - Granel, Brigitte

AU - Frances, Camille

AU - Garcier, Francois

AU - Edery, Patrick

AU - Boulinguez, Serge

AU - Domergues, Jean-Paul

AU - Delpech, Marc

AU - Greateau, Gilles

PY - 2002

Y1 - 2002

U2 - 10.1086/340786

DO - 10.1086/340786

M3 - Article

VL - 70

SP - 1498

EP - 1506

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 6

ER -