PubMed ID:
17241866
Public Release Type:
Journal
Publication Year: 2007
Affiliation: Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
DOI:
https://doi.org/10.1053/j.gastro.2006.10.034
Authors:
Aronow BJ,
Bezerra JA,
Jegga AG,
Liu C,
Miethke A,
Mourya R,
Wang N
Studies:
A Prospective Database of Infants With Cholestasis
Inherited syndromes of intrahepatic cholestasis commonly result from mutations in the genes SERPINA1 (alpha(1)-antitrypsin deficiency), JAG1 (Alagille syndrome), ATP8B1 (progressive familial intrahepatic cholestasis type 1 [PFIC1]), ABCB11 (PFIC2), and ABCB4 (PFIC3). However, the large gene sizes and lack of mutational hotspots make it difficult to survey for disease-causing mutations in clinical practice. Here, we aimed to develop a technological tool that reads out the nucleotide sequence of these genes rapidly and accurately.