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Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA
Author(s) -
Piard Juliette,
Depienne Christel,
Keren Boris,
Fédirko Estelle,
Trouillard Oriane,
Charles Perrine,
Heron Delphine
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34334
Subject(s) - multiplex ligation dependent probe amplification , humanities , philosophy , genetics , biology , gene , exon