TY  - GEN
AU  - Morgan,Neil V
AU  - Hartley,Jane L
AU  - Setchell,Kenneth D R
AU  - Simpson,Michael A
AU  - Brown,Rachel
AU  - Tee,Louise
AU  - Kirkham,Sian
AU  - Pasha,Shanaz
AU  - Trembath,Richard C
AU  - Maher,Eamonn R
AU  - Gissen,Paul
AU  - Kelly,Deirdre A
TI  - A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease
SN  - 1750-1172
PY  - 2014///0102
KW  - Bile Acids and Salts
KW  - metabolism
KW  - Cholestasis
KW  - diagnosis
KW  - Consanguinity
KW  - DNA Helicases
KW  - genetics
KW  - Exome
KW  - Female
KW  - Frameshift Mutation
KW  - Humans
KW  - Infant
KW  - Liver Diseases
KW  - Male
KW  - Oxidoreductases
KW  - Phenotype
KW  - Sequence Analysis, DNA
KW  - Severity of Illness Index
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1186/1750-1172-8-74
ER  -