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Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1.
El-Rassy, Inaam; Bou-Abdallah, Jad; Al-Ghadban, Sara; Bitar, Fadi; Nemer, Georges.
Affiliation
  • El-Rassy I; Department of Biochemistry, American University of Beirut, Beirut, Lebanon.
Am J Med Genet A ; 146A(7): 937-9, 2008 Apr 01.
Article in En | MEDLINE | ID: mdl-18266235
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Calcium-Binding Proteins / Frameshift Mutation / Alagille Syndrome / Intercellular Signaling Peptides and Proteins / Basic Helix-Loop-Helix Transcription Factors / Receptor, Notch2 / Membrane Proteins Limits: Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2008 Document type: Article Affiliation country: Lebanon
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Calcium-Binding Proteins / Frameshift Mutation / Alagille Syndrome / Intercellular Signaling Peptides and Proteins / Basic Helix-Loop-Helix Transcription Factors / Receptor, Notch2 / Membrane Proteins Limits: Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2008 Document type: Article Affiliation country: Lebanon