Angelman syndrome due to a novel splicing mutation of the UBE3A gene

Journal of Child Neurology

Volumn 23, Issue 8, 2008, Pages 912-915

  Sartori, Stefano ^a   Anesi, Laura ^a   Polli, Roberta ^a   Toldo, Irene ^a   Casarin, Alberto ^a   Drigo, Paola ^a   Murgia, Alessandra ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

Angelman syndrome; Mutation; Phenotype; Splice site; UBE3A

Indexed keywords

ADENINE; GENOMIC DNA; GUANINE; UBIQUITIN PROTEIN LIGASE E3; UBIQUITIN PROTEIN LIGASE E3A;

ARTICLE; CASE REPORT; COMMUNICATION DISORDER; CONSENSUS SEQUENCE; ELECTROENCEPHALOGRAPHY; FACIES; FACILITATED COMMUNICATION; FEMALE; GENE MUTATION; HAPPY PUPPET SYNDROME; HUMAN; HYPERSALIVATION; MICROCEPHALY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOLOGICAL LAUGHTER; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; ANGELMAN SYNDROME; CHILD, PRESCHOOL; CHROMOSOME DELETION; CONSENSUS SEQUENCE; DEVELOPMENTAL DISABILITIES; FEMALE; FOLLOW-UP STUDIES; GENOMIC IMPRINTING; HETEROZYGOTE DETECTION; HUMANS; INFANT; INTRONS; LANGUAGE DEVELOPMENT DISORDERS; MUTATION; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES; SPEECH INTELLIGIBILITY;

EID: 48449085507     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808316367     Document Type: Article

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