Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1
doi: 10.1002/ajmg.a.32225
pmid: 18266235
Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1
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- American University of Beirut Lebanon
Male, Calcium-Binding Proteins, Membrane Proteins, Pedigree, Alagille Syndrome, Repressor Proteins, Basic Helix-Loop-Helix Transcription Factors, Humans, Intercellular Signaling Peptides and Proteins, Female, Serrate-Jagged Proteins, Receptor, Notch2, Frameshift Mutation, Jagged-1 Protein
Male, Calcium-Binding Proteins, Membrane Proteins, Pedigree, Alagille Syndrome, Repressor Proteins, Basic Helix-Loop-Helix Transcription Factors, Humans, Intercellular Signaling Peptides and Proteins, Female, Serrate-Jagged Proteins, Receptor, Notch2, Frameshift Mutation, Jagged-1 Protein
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