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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

par Crow, Yanick Joseph;Aeby, Alec ;De Laet, Corinne ; [et al.]
Référence American journal of medical genetics. Part A, 167, 2, page (296-312)
Publication Publié, 2015-02

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Titre:	Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Auteur:	Crow, Yanick Joseph; Aeby, Alec; De Laet, Corinne; et al.
Informations sur la publication:	American journal of medical genetics. Part A, 167, 2, page (296-312)
Statut de publication:	Publié, 2015-02
Sujet CREF:	Génétique clinique
	Biologie
Mots-clés:	Aicardi-Goutières syndrome
	Bilateral striatal necrosis
	Interferon signature
	Spastic paraparesis
	Type I interferon
Note générale:	SCOPUS: ar.j
	SCOPUS: ar.j
Langue:	Anglais
Identificateurs:	urn:issn:1552-4825
	info:doi/10.1002/ajmg.a.36887
	info:scp/84921417123