Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. [electronic resource]
- Nature genetics May 2003
- 91-6 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
1061-4036
10.1038/ng1147 doi
Acyltransferases--genetics Bile Acids and Salts--blood Case-Control Studies Ethnicity--genetics Female Genotype Humans Linkage Disequilibrium Liver--pathology Malabsorption Syndromes--blood Male Membrane Proteins--genetics Mutation Pedigree Pennsylvania Phenotype Tight Junctions--pathology Zonula Occludens-2 Protein