Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1.
El-Rassy
Inaam
I
Department of Biochemistry, American University of Beirut, Beirut, Lebanon.
Bou-Abdallah
Jad
J
Al-Ghadban
Sara
S
Bitar
Fadi
F
Nemer
Georges
G
D016738:Alagille Syndrome / Q000235:genetics*; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D000072100:Jagged-1 Protein; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D051883:Receptor, Notch2 / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D000072099:Serrate-Jagged Proteins
D051792:Basic Helix-Loop-Helix Proteins; D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D051883:Receptor, Notch2; D012097:Repressor Proteins; D000072099:Serrate-Jagged Proteins; C405693:HEY2 protein, human; C000606273:JAG1 protein, human; C497764:NOTCH2 protein, human