Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in aicardi-Goutières syndrome

Human Mutation

Volumn 34, Issue 8, 2013, Pages 1066-1070

  Rice, Gillian I ^a,b   Reijns, Martin A M ^c   Coffin, Stephanie R ^d   Forte, Gabriella M A ^a,b   Anderson, Beverley H ^a,b   Szynkiewicz, Marcin ^a,b   Gornall, Hannah ^a,b   Gent, David ^a,b   Leitch, Andrea ^c   Botella, Maria P ^e   Fazzi, Elisa ^f   Gener, Blanca ^g   Lagae, Lieven ^h   Olivieri, Ivana ⁱ   Orcesi, Simona ⁱ   Swoboda, Kathryn J ^j   Perrino, Fred W ^d   Jackson, Andrew P ^c   Crow, Yanick J ^a,b  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d WAKE FOREST SCHOOL OF MEDICINE   (United States)

^e HOSPITAL TXAGORRITXU   (Spain)

^f UNIVERSITY OF BRESCIA   (Italy)

^g BIOCRUCES BIZKAIA HEALTH RESEARCH INSTITUTE   (Spain)

^h UNIVERSITY HOSPITALS LEUVEN   (Belgium)

ⁱ C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^j UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

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Author keywords

AGS; Aicardi Gouti res syndrome; RNASEH2A; Splicing; Synonymous mutations

Indexed keywords

AMINO ACID; RIBONUCLEASE H; RIBONUCLEASE H2; UNCLASSIFIED DRUG;

AICARDI GOUTIERES SYNDROME; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DONOR SITE; ENZYME MECHANISM; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; H2 SYSTEM; HOMOZYGOTE; HUMAN; INDEL MUTATION; MALE; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; RNA SPLICING; SCHOOL CHILD;

AGS; AICARDI-GOUTIÈRES SYNDROME; RNASEH2A; SPLICING; SYNONYMOUS MUTATIONS;

AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; FEMALE; GENETIC VARIATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; NERVOUS SYSTEM MALFORMATIONS; POINT MUTATION; RIBONUCLEASE H; RNA SPLICE SITES;

EID: 84880514042     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22336     Document Type: Article

References (25)

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