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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: | , , , , , , , , , , |
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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 |