Investigation of UBE3A and MECP2 in Angelman Syndrome (AS) and Patients with Features of AS

American Journal of Medical Genetics

Volumn 125 A, Issue 2, 2004, Pages 167-172

  Hitchins, Megan P ^a   Rickard, Sarah ^a   Dhalla, Fatima ^a   De Vries, Bert B A ^a,b   Winter, Robin ^a   Pembrey, Marcus E ^a   Malcolm, Sue ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Angelman syndrome; MECP2; Rett syndrome; UBE3A

Indexed keywords

ARTICLE; CLINICAL ARTICLE; GENE; GENE MUTATION; GENETIC SCREENING; HAPPY PUPPET SYNDROME; HUMAN; MECP2 GENE; MUTATION RATE; PRIORITY JOURNAL; RETT SYNDROME; SINGLE STRAND CONFORMATION POLYMORPHISM; UBE3A GENE;

ANGELMAN SYNDROME; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 22; COHORT STUDIES; DNA-BINDING PROTEINS; GENE DELETION; GENETIC SCREENING; GENOMIC IMPRINTING; HUMANS; LYMPHOCYTES; MALE; METHYL-CPG-BINDING PROTEIN 2; MOSAICISM; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS; RETT SYNDROME; UBIQUITIN-PROTEIN LIGASES;

ATAXIA;

EID: 1442332954     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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