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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
F1000Research
2013
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Materias: | |
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 |
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