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Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1
Author(s) -
ElRassy Inaam,
BouAbdallah Jad,
AlGhadban Sara,
Bitar Fadi,
Nemer Georges
Publication year - 2008
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.32225
Subject(s) - frameshift mutation , medicine , biochemistry , mutation , genetics , biology , gene