Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

Experimental and Molecular Medicine

Volumn 42, Issue 12, 2010, Pages 842-848

  Calì, Francesco ^a   Ragalmuto, Alda ^a   Chiavetta, Valeria ^a   Calabrese, Giuseppe ^b   Fichera, Marco ^c   Vinci, Mirella ^a,d   Ruggeri, Giuseppa ^a   Schinocca, Pietro ^a   Sturnio, Maurizio ^c   Romano, Salvatore ^b   Romano, Valentino ^a,e   Elia, Maurizio ^b  

^a Laboratorio di Genetica Molecolare   (Italy)

^b Unità Operativa di Neurologia e Neurofisiopatologia Clinica e Strumentale   (Italy)

^c OASI RESEARCH INSTITUTE IRCCS   (Italy)

^d Dipartimento di Oncologia Sperimentale e Applicazioni Cliniche   (Italy)

^e UNIVERSITY OF PALERMO   (Italy)

Author keywords

Angelman syndrome; Gene dosage; Genetic association studies; Ubiquitin protein ligases

Indexed keywords

UBIQUITIN PROTEIN LIGASE E3;

ARTICLE; ATAXIA; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CRYPTORCHISM; DIAGNOSTIC TEST ACCURACY STUDY; DNA METHYLATION; DNA SEQUENCE; ELECTROENCEPHALOGRAM; EXON; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HAPPY PUPPET SYNDROME; HUMAN; HYPERSALIVATION; HYPOPLASIA; LIP MALFORMATION; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PHENOTYPE; POLYMERASE CHAIN REACTION; PSYCHOMOTOR DEVELOPMENT; SCHOOL CHILD; SCOLIOSIS;

EID: 78650810610     PISSN: 12263613     EISSN: 20926413     Source Type: Journal    
DOI: 10.3858/emm.2010.42.12.087     Document Type: Article

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