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Prenatal Diagnosis and Carrier Detection for a Point Mutation in UBE3A Causing Angelman Syndrome

✍ Scribed by Ting-Fen Tsai; Annick Raas-Rothschild; Ziva Ben-Neriah; Arthur L. Beaudet


Book ID
119769982
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
242 KB
Volume
63
Category
Article
ISSN
0002-9297

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Novel UBE3A mutations causing Angelman s
✍ Cristina CamprubΓ­; Miriam Guitart; Elisabeth Gabau; Maria Dolors Coll; Sergi Vil πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 148 KB πŸ‘ 2 views

## Abstract Angelman syndrome (AS) is a genetic disorder caused by a deficiency of __UBE3A__ imprinted gene expression from the maternal chromosome 15. In 10% of AS cases the genetic cause is a mutation affecting the maternal copy of the __UBE3A__ gene. In two large Spanish series of clinically str