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

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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
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An: 88013857
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  Data: A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
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  Data: <searchLink fieldCode="AR" term="%22Morgan%2C+Neil+V%2E%22">Morgan, Neil V.</searchLink><relatesTo>1,2</relatesTo><i> n.v.morgan@bham.ac.uk</i><br /><searchLink fieldCode="AR" term="%22Hartley%2C+Jane+L%2E%22">Hartley, Jane L.</searchLink><relatesTo>1,3</relatesTo><br /><searchLink fieldCode="AR" term="%22Setchell%2C+Kenneth+D%2E+R%2E%22">Setchell, Kenneth D. R.</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AR" term="%22Simpson%2C+Michael+A%2E%22">Simpson, Michael A.</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AR" term="%22Brown%2C+Rachel%22">Brown, Rachel</searchLink><relatesTo>6</relatesTo><br /><searchLink fieldCode="AR" term="%22Tee%2C+Louise%22">Tee, Louise</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Kirkham%2C+Sian%22">Kirkham, Sian</searchLink><relatesTo>7</relatesTo><br /><searchLink fieldCode="AR" term="%22Pasha%2C+Shanaz%22">Pasha, Shanaz</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Trembath%2C+Richard+C%2E%22">Trembath, Richard C.</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AR" term="%22Maher%2C+Eamonn+R%2E%22">Maher, Eamonn R.</searchLink><relatesTo>1,8</relatesTo><br /><searchLink fieldCode="AR" term="%22Gissen%2C+Paul%22">Gissen, Paul</searchLink><relatesTo>9</relatesTo><br /><searchLink fieldCode="AR" term="%22Kelly%2C+Deirdre+A%2E%22">Kelly, Deirdre A.</searchLink><relatesTo>3</relatesTo>
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  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 2013, Vol. 8 Issue 1, p1-5. 5p. 1 Diagram, 1 Graph.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=88013857
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        Value: 10.1186/1750-1172-8-74
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        Text: English
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      – TitleFull: A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
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            NameFull: Morgan, Neil V.
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              Text: 2013
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              Y: 2013
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