Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. [electronic resource]
Producer: 20060516Description: 321 p. digitalISSN:- 1098-1004
- Alagille Syndrome -- genetics
- Calcium-Binding Proteins -- chemistry
- Codon, Nonsense
- DNA Mutational Analysis
- Female
- Frameshift Mutation
- Genotype
- Humans
- Intercellular Signaling Peptides and Proteins
- Jagged-1 Protein
- Male
- Membrane Proteins -- chemistry
- Mutation, Missense
- Point Mutation
- Poland
- Polymerase Chain Reaction
- Protein Structure, Tertiary -- genetics
- RNA Splice Sites -- genetics
- Serrate-Jagged Proteins
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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