The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome. [electronic resource]
Producer: 20010726Description: 330-7 p. digitalISSN:- 0009-9163
- Alagille Syndrome -- genetics
- Binding Sites -- genetics
- Calcium-Binding Proteins
- DNA -- chemistry
- DNA Mutational Analysis
- Family Health
- Female
- Genotype
- Humans
- Intercellular Signaling Peptides and Proteins
- Jagged-1 Protein
- Liver -- pathology
- Male
- Membrane Proteins
- Mutation
- Phenotype
- Polymorphism, Single-Stranded Conformational
- Proteins -- genetics
- Serrate-Jagged Proteins
- Severity of Illness Index
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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