Article
Analysis of gene mutations in children with cholestasis of undefined etiology.
Journal of pediatric gastroenterology and nutrition - 1 Oct 2010
Matte Ursula, Mourya Reena, Miethke Alexander, Liu Cong, Kauffmann Gregory, Moyer Katie, Zhang Kejian, Bezerra Jorge A
Abstract excerpt
BACKGROUND: The discovery of genetic mutations in children with inherited syndromes of intrahepatic cholestasis allows for diagnostic specificity despite similar clinical phenotypes. Here, we aimed to determine whether mutation screening of target genes could assign a molecular diagnosis in children with idiopathic cholestasis. PATIENTS AND METHODS: DNA samples were obtained from 51 subjects with cholestasis of...
Topics
- ATP Binding Cassette Transporter, Subfamily B
- ATP Binding Cassette Transporter, Subfamily B, Member 11
- ATP-Binding Cassette Transporters
- Adenosine Triphosphatases
- Adolescent
- Calcium-Binding Proteins
- Child
- Child, Preschool
- Cholestasis