Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in aicardi-goutières syndrome

Journal of Child Neurology

Volumn 27, Issue 1, 2012, Pages 51-60

  Izzotti, Alberto ^a   Longobardi, Mariagrazia ^a   Cartiglia, Cristina ^a   Anzuini, Francesco ^a   Arrigo, Patrizio ^b   Fazzi, Elisa ^c   Orcesi, Simona ^d   Piana, Roberta La ^d,e   Pulliero, Alessandra ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b CNR   (Italy)

^c UNIVERSITY OF BRESCIA   (Italy)

^d C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^e OSPEDALE NIGUARDA CA GRANDA   (Italy)

Author keywords

Aicardi Gouti res syndrome mutations; Brain damage; Interferon alpha

Indexed keywords

ALPHA INTERFERON; EXONUCLEASE; RIBONUCLEASE H; TOLL LIKE RECEPTOR;

AICARDI GOUTIERES SYNDROME; ANTIANGIOGENIC ACTIVITY; ARTICLE; CELL ACTIVATION; CENTRAL NERVOUS SYSTEM; CEREBROSPINAL FLUID; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; DNA REPAIR; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENOTYPE; HUMAN; INFORMATION SEEKING; INTERFERON PRODUCTION; LYMPHOCYTE; MALE; MICROARRAY ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; T LYMPHOCYTE;

ANALYSIS OF VARIANCE; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; CHILD; CHILD, PRESCHOOL; DNA REPAIR ENZYMES; EXODEOXYRIBONUCLEASES; FEMALE; GENE EXPRESSION; GENOTYPE; HUMANS; INTERFERON-ALPHA; LYMPHOCYTOSIS; MALE; MICROARRAY ANALYSIS; MUTATION; NERVOUS SYSTEM MALFORMATIONS; RIBONUCLEASE H; TOLL-LIKE RECEPTORS;

EID: 84856893266     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811413582     Document Type: Article

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