Article

Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11

2013-03-20

Abstract excerpt

<h4>Background: </h4> : Neonatal cholestasis is a common presentation of childhood liver diseases and can be a feature of various conditions including disorders of bile acid biogenesis and transport, various inborn errors of metabolism and perinatal infections. Some inherited metabolic diseases can be easily screened using biochemical assays, however many can only be accurately diagnosed by DNA sequencing. Fluores...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7ae2d169-ecc5-5919-8051-d8afbb6378a4
DOI: 10.12688/f1000research.2-32.v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11DOI 10.12688/f1000research.2-32.v2Read

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.Semantic proximity Read

Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults.Semantic proximity Read

Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and ChallengesSemantic proximity Read

Novel Resequencing Chip Customized to Diagnose Mutations in Patients With Inherited Syndromes of Intrahepatic CholestasisSemantic proximity Read

Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing.Semantic proximity Read

Analysis of gene mutations in children with cholestasis of undefined etiology.Semantic proximity Read

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.Semantic proximity Read

Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1.Semantic proximity Read

Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination.Semantic proximity Read

Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.Semantic proximity Read

Heterozygous ABCB4 mutations in children with cholestatic liver disease.Semantic proximity Read

Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography.Semantic proximity Read