- Tytuł :
- A novel JAG1 mutation in a patient with Alagille's syndrome.
- Autorzy :
- Źródło :
- Pathology [Pathology] 2010; Vol. 42 (5), pp. 496-8.
- Typ publikacji :
- Case Reports; Letter
- MeSH Terms :
-
Alagille Syndrome/*genetics
Calcium-Binding Proteins/*genetics
Intercellular Signaling Peptides and Proteins/*genetics
Membrane Proteins/*genetics
Abnormalities, Multiple/genetics ; Alagille Syndrome/pathology ; Child, Preschool ; DNA Mutational Analysis ; Fatal Outcome ; Female ; Humans ; Jagged-1 Protein ; Magnetic Resonance Imaging ; Point Mutation ; Serrate-Jagged Proteins -
Raport