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Mutation Analysis of UBE3A in Angelman Syndrome Patients

1998218 citationsJournal Articlebronze Open Access

Authors

Perrine Malzac · Hôpital d'Enfants

Hayley Webber · Boston Children's Hospital

A. Moncla · Hôpital d'Enfants

John M. Graham · Cedars-Sinai Medical Center

Mary K. Kukolich · Cook Children's Medical Center

Charles A. Williams · University of Florida

Roberta A Pagon ·

Topics & Keywords

Genetic Syndromes and Imprinting Prenatal Screening and Diagnostics Epigenetics and DNA Methylation

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: The American Journal of Human Genetics

Volume 62, Issue 6, pp. 1353-1360

DOI: 10.1086/301877

Field-Weighted Citation Impact: 8.45

Mutation Analysis of UBE3A in Angelman Syndrome Patients | Researchclopedia

Seattle Children's Hospital

Linda Ramsdell · Seattle Children's Hospital

Tatsuya Kishino · Boston Children's Hospital

Joseph Wagstaff · Boston Children's Hospital