Article
Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.
Human molecular genetics - 1 Jun 1995
Carlton V E, Knisely A S, Freimer N B
Abstract excerpt
A locus for progressive familial intrahepatic cholestasis (PFIC), also known as Byler disease, has been mapped to a 19 cM region of chromosome 18 by a search for shared segments, using patients from the Amish kindred in which the disorder was originally described. A similar liver disease, benign recurrent intrahepatic cholestasis (BRIC), recently has been mapped to the same region, suggesting that these two...
Topics
- Alleles
- Cell Line, Transformed
- Child
- Cholestasis, Intrahepatic
- Chromosome Mapping
- Chromosomes, Human, Pair 18
- Female
- Humans
- Infant
- Male
- Pedigree