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

Background : 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 s...

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Hauptverfasser: McKay, Kirsten E, Bruce, Christopher K, Hartley, Jane L, Knisely, A S, Baumann, Ulrich, Bockisch, Sonja-Stephanie, Sturm, Ekkehard, Hendriksz, Christian J, Kelly, Deidre A, Macdonald, Fiona, Gissen, Paul
Format: Artigo
Sprache:Inglês
Veröffentlicht: F1000Research 2013
Schlagworte:
Short Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3907151/
https://ncbi.nlm.nih.gov/pubmed/24627769
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.2-32.v2
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