have recently provided support for the heterogeneity of this Progressive familial intrahepatic cholestasis (PFIC) is clinical entity, suggesting different causes: clinical, biochemia lethal inherited childhood cholestasis of hepatocellucal, and liver histological features suggest at least two subcat
A newABCB11mutation in two Italian children with familial intrahepatic cholestasis
โ Scribed by Valerio Nobili; Silvia Di Giandomenico; Paola Francalanci; Francesco Callea; Matilde Marcellini; Filippo M. Santorelli
- Publisher
- Springer Japan
- Year
- 2006
- Tongue
- English
- Weight
- 650 KB
- Volume
- 41
- Category
- Article
- ISSN
- 0944-1174
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Progressive familial intrahepatic cholestasis (PFIC) types 1 and 2 are characterized by normal serum gamma-glutamyl transferase (GGT) activity and are due to mutations in ATP8B1 (encoding FIC1) and ABCB11 (encoding bile salt export pump [BSEP]), respectively. Our goal was to evaluate the features th
Chromosomal studies of two brothers with mental retardation and dysmorphic features showed a 13p+ chromosome. The same 13p+ chromosome was found in the father and the other sib, who were both phenotypically normal. The relationship between the physical abnormalities and the chromosomal findings are