A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

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Bibliographic Details
Title: A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
Authors: Morgan, Neil V.1,2 n.v.morgan@bham.ac.uk, Hartley, Jane L.1,3, Setchell, Kenneth D. R.4, Simpson, Michael A.5, Brown, Rachel6, Tee, Louise1, Kirkham, Sian7, Pasha, Shanaz1, Trembath, Richard C.5, Maher, Eamonn R.1,8, Gissen, Paul9, Kelly, Deirdre A.3
Source: Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-5. 5p. 1 Diagram, 1 Graph.
Database: Academic Search Ultimate
Description
ISSN:17501172
DOI:10.1186/1750-1172-8-74