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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2013
Materias:
Short Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907151/
https://www.ncbi.nlm.nih.gov/pubmed/24627769
http://dx.doi.org/10.12688/f1000research.2-32.v2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907151/
https://www.ncbi.nlm.nih.gov/pubmed/24627769
http://dx.doi.org/10.12688/f1000research.2-32.v2

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