A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands

Acta Paediatrica, International Journal of Paediatrics

Volumn 101, Issue 11, 2012, Pages

  Ostergaard, Elsebet ^a   Joensen, Frodi ^b   Sundberg, Karin ^a   Duno, Morten ^a   Hansen, Flemming J ^a   Batbayli, Mustafa ^a   Sørensen, Nicolina ^c   Born, Alfred Peter ^a  

^a Rigshospitalet   (Denmark)

^b National Hospital of the Faroe Islands   (Faroe Islands)

^c HILLERØD HOSPITAL   (Denmark)

Author keywords

Aicardi Goutieres syndrome; Faroe Islands; Founder mutation; Homozygosity mapping

Indexed keywords

ALPHA INTERFERON; BACLOFEN; NEOPTERIN;

AICARDI GOUTIERES SYNDROME; ARTICLE; BIOMETRY; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHILD; CHROMOSOME 13; COMPUTER ASSISTED TOMOGRAPHY; DYSTONIA; FEMALE; FETUS DEATH; FETUS HYDROPS; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; MALE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCUTANEOUS ENDOSCOPIC GASTROSTOMY; PHENOTYPE; PRENATAL CARE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SCHOOL CHILD; SPLICE SITE MUTATION;

ATLANTIC ISLANDS; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; NERVOUS SYSTEM MALFORMATIONS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POINT MUTATION; RIBONUCLEASE H; RNA SPLICE SITES;

EID: 84867103454     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2012.02807.x     Document Type: Article

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