Discordant phenotypes in first cousins with UBE3A frameshift mutation

American Journal of Medical Genetics

Volumn 127, Issue 3, 2004, Pages 258-262

  Molfetta, G A ^a,b,e   Munoz M V R ^c   Santos, A C ^a   Silva Jr , W A ^a,b   Wagstaff, J ^d   Pina Neto, J M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Center for Cell Therapy and Regional Blood Center   (Brazil)

^c Clinica Materno Fetal   (Brazil)

^d UNIVERSITY OF VIRGINIA   (United States)

^e Hemocentro   (Brazil)

Author keywords

Angelman syndrome; Mutation screening; UBE3A gene

Indexed keywords

UBIQUITIN PROTEIN LIGASE; UBIQUITIN PROTEIN LIGASE E6 AP; UNCLASSIFIED DRUG;

ARTICLE; BRAIN ATROPHY; BRAIN MALFORMATION; CASE REPORT; DISEASE SEVERITY; EXON; FRAMESHIFT MUTATION; GENE DUPLICATION; HAPPY PUPPET SYNDROME; HUMAN; MOSAICISM; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RELATIVE; SCHOOL CHILD; SCREENING; SIBLING; SPASTICITY; SYMPTOM;

EID: 2542425899     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20723     Document Type: Article

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