Morgan, Neil V <br/><br/>
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.  [electronic resource] 

 -  Orphanet journal of rare diseases  May 2013 
 - 74 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1750-1172 
<br/><br/><label>Standard No.: </label>10.1186/1750-1172-8-74  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Bile Acids and Salts--metabolism<br/>Cholestasis--diagnosis<br/>Consanguinity<br/>DNA Helicases--genetics<br/>Exome<br/>Female<br/>Frameshift Mutation<br/>Humans<br/>Infant<br/>Liver Diseases--diagnosis<br/>Male<br/>Oxidoreductases--genetics<br/>Phenotype<br/>Sequence Analysis, DNA<br/>Severity of Illness Index