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

Morgan, Neil V

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

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1750-1172

10.1186/1750-1172-8-74 doi


Bile Acids and Salts--metabolism
Cholestasis--diagnosis
Consanguinity
DNA Helicases--genetics
Exome
Female
Frameshift Mutation
Humans
Infant
Liver Diseases--diagnosis
Male
Oxidoreductases--genetics
Phenotype
Sequence Analysis, DNA
Severity of Illness Index