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Orphanet Journal of Rare Diseases 2013, 8:1. doi:10.1186/1750-1172-8-74
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Neil V Morgan
Jane L Hartley
Kenneth DR Setchell
Michael A Simpson
Rachel Brown
Louise Tee
Sian Kirkham
Shanaz Pasha
Richard C Trembath
Eamonn R Maher
Paul Gissen
Deirdre A Kelly
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease
Orphanet Journal of Rare Diseases 2013, 8:1. doi:10.1186/1750-1172-8-74
Orphanet Journal of Rare Diseases
2013-05-16
� 2013 Morgan et al.; licensee BioMed Central Ltd.
Bile acid metabolism
Diarrhoea
Gene mutation
Whole exome sequencing
Paediatric liver disease
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Bile acid metabolism; Diarrhoea; Gene mutation; Whole exome sequencing; Paediatric liver disease
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