UBE3A Gene Mutations in Finnish Angelman Syndrome Patients Detected by Conformation Sensitive Gel Electrophoresis

American Journal of Medical Genetics

Volumn 126 A, Issue 3, 2004, Pages 248-252

  Rapakko, Katrin ^a   Kokkonen, Hannaleena ^a   Leisti, Jaakko ^a  

^a OULU UNIVERSITY HOSPITAL   (Finland)

Author keywords

Angelman syndrome; CSGE; Somatic mosaicism; UBE3A mutations

Indexed keywords

UBIQUITIN PROTEIN LIGASE;

ADULT; ARTICLE; CHILD; CHROMOSOME 15Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONFORMATION SENSITIVE GEL ELECTROPHORESIS; CONTROLLED STUDY; DNA METHYLATION; FEMALE; GEL ELECTROPHORESIS; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENETIC COUNSELING; GENETIC SCREENING; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

EID: 1842510713     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20587     Document Type: Article

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