Novel deletion encompassing exons 5-12 of the UBE3A gene in a girl with Angelman syndrome

European Journal of Medical Genetics

Volumn 54, Issue 3, 2011, Pages 348-350

  Beleza Meireles, Ana ^a,b   Cerqueira, Rita ^c   Sousa, Sérgio B ^a,d   Palmeiro, Aida ^c   Ramos, Lina ^a  

^a Hospital Center Coimbra   (Portugal)

^b UNIVERSITY OF AVEIRO   (Portugal)

^c CGC GENETICS   (Portugal)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Angelman; Diagnosis; MLPA; Syndrome; UBE3A

Indexed keywords

UBIQUITIN PROTEIN LIGASE E3;

AGGRESSION; ARTICLE; CASE REPORT; CHILD; COPY NUMBER VARIATION; EXON; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENETIC ANALYSIS; HAPPY PUPPET SYNDROME; HUMAN; HYPERACTIVITY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; SCHOOL CHILD;

ANGELMAN SYNDROME; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; EXONS; FEMALE; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; NUCLEIC ACID AMPLIFICATION TECHNIQUES; UBIQUITIN-PROTEIN LIGASES;

EID: 79955464336     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.02.010     Document Type: Article

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