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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

par Rice, Gillian I;Bond, Jacquelyn;Asipu, Aruna;Brunette, Rebecca L;Manfield, Iain W;Carr, Ian M;Fuller, Jonathan C;Jackson, Richard M;Lamb, Teresa;Briggs, Tracy A;Ali, Manir;Gornall, Hannah;Couthard, Lydia R;Aeby, Alec ;Attard-Montalto, Simon P;Bertini, Enrico;Bodemer, Christine;Brockmann, Knut;Brueton, Louise A;Corry, Peter C;Desguerre, Isabelle;Fazzi, Elisa;Cazorla, Angels Garcia;Gener, Blanca ;Hamel, Ben C J;Heiberg, Arvid;Hunter, Matthew;van der Knaap, Marjo S;Kumar, Ram;Lagae, Lieven;Landrieu, Pierre G;Lourenco, Charles M;Marom, Daphna;McDermott, Michael F;van der Merwe, William;Orcesi, Simona;Prendiville, Julie S;Rasmussen, Magnhild;Shalev, Stavit A;Soler, Doriette M;Shinawi, Marwan;Spiegel, Ronen;Tan, Eng-Chye;Vanderver, Adeline;Wakeling, Emma L;Wassmer, Evangeline;Whittaker, Elizabeth;Lebon, Pierre;Stetson, Daniel B;Bonthron, David T;Crow, Yanick J
Référence Nature genetics, 41, 7, page (829-832)
Publication Publié, 2009-07

Article révisé par les pairs

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Titre:	Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Auteur:	Rice, Gillian I; Bond, Jacquelyn; Asipu, Aruna; Brunette, Rebecca L; Manfield, Iain W; Carr, Ian M; Fuller, Jonathan C; Jackson, Richard M; Lamb, Teresa; Briggs, Tracy A; Ali, Manir; Gornall, Hannah; Couthard, Lydia R; Aeby, Alec; Attard-Montalto, Simon P; Bertini, Enrico; Bodemer, Christine; Brockmann, Knut; Brueton, Louise A; Corry, Peter C; Desguerre, Isabelle; Fazzi, Elisa; Cazorla, Angels Garcia; Gener, Blanca; Hamel, Ben C J; Heiberg, Arvid; Hunter, Matthew; van der Knaap, Marjo S; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre G; Lourenco, Charles M; Marom, Daphna; McDermott, Michael F; van der Merwe, William; Orcesi, Simona; Prendiville, Julie S; Rasmussen, Magnhild; Shalev, Stavit A; Soler, Doriette M; Shinawi, Marwan; Spiegel, Ronen; Tan, Eng-Chye; Vanderver, Adeline; Wakeling, Emma L; Wassmer, Evangeline; Whittaker, Elizabeth; Lebon, Pierre; Stetson, Daniel B; Bonthron, David T; Crow, Yanick J
Informations sur la publication:	Nature genetics, 41, 7, page (829-832)
Statut de publication:	Publié, 2009-07
Sujet CREF:	Sciences bio-médicales et agricoles
MeSH keywords:	Amino Acid Substitution
	Brain Diseases, Metabolic, Inborn -- genetics -- immunology
	Humans
	Immunity, Innate
	Monomeric GTP-Binding Proteins -- genetics -- immunology
Note générale:	Journal Article
	Research Support, Non-U.S. Gov't
	SCOPUS: ar.j
Langue:	Anglais
Identificateurs:	urn:issn:1061-4036
	info:doi/10.1038/ng.373
	info:pii/ng.373
	info:scp/67649861901
	info:pmid/19525956