Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. [electronic resource]
- Human mutation May 2006
- 436-43 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.20310 doi
Alagille Syndrome--diagnosis Calcium-Binding Proteins--genetics Cohort Studies DNA Mutational Analysis Genetic Testing Humans In Situ Hybridization, Fluorescence Intercellular Signaling Peptides and Proteins Jagged-1 Protein Membrane Proteins--genetics Mutation Polymorphism, Genetic Serrate-Jagged Proteins