Genetics in Medicine Open (Jan 2023)

P202: Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndrome

Liz Jalazo,
Jennifer M. Mathews,
Jalin Stelzer,
Mattijs Punt,
Jason Yi,
Ype Elgersma,
Elizabeth Jalazo

Affiliations

Liz Jalazo: UNC School of Medicine
Jennifer M. Mathews: UNC School of Medicine
Jalin Stelzer: Washington University in St. Louis
Mattijs Punt: Erasmus Medical Center, Rotterdam
Jason Yi: Washington University in St. Louis
Ype Elgersma: Erasmus Medical Center, Rotterdam
Elizabeth Jalazo: UNC School of Medicine

Journal volume & issue: Vol. 1, no. 1
p. 100230

Abstract

No abstracts available.

Published in Genetics in Medicine Open

ISSN: 2949-7744 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Science: Biology (General): Genetics; Medicine
Website: https://www.sciencedirect.com/journal/genetics-in-medicine-open

About the journal