Mutation update for UBE3A variants in angelman syndrome

Human Mutation

Volumn 35, Issue 12, 2014, Pages 1407-1417

  Sadikovic, Bekim ^a   Fernandes, Priscilla ^b   Zhang, Victor Wei ^c   Ward, Patricia A ^c   Miloslavskaya, Irene ^c   Rhead, William ^d   Rosenbaum, Richard ^e   Gin, Robert ^e   Roa, Benjamin ^b   Fang, Ping ^c  

^a MCMASTER UNIVERSITY   (Canada)

^b Myriad Genetic Laboratories   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d MEDICAL COLLEGE OF WISCONSIN   (United States)

^e Littleton Pediatric Medical Center   (United States)

Author keywords

Angelman syndrome; DNA sequencing; Genetic testing; UBE3A

Indexed keywords

UBE3A PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

FEMALE; GENETICS; HAPPY PUPPET SYNDROME; HUMAN; MALE; MUTATION; PEDIGREE;

ANGELMAN SYNDROME; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; UBIQUITIN-PROTEIN LIGASES;

EID: 84911442598     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22687     Document Type: Article

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