| 000 | 01630 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250516151420.0 | ||
| 264 | 0 | _c20140102 | |
| 008 | 201401s 0 0 eng d | ||
| 022 | _a1750-1172 | ||
| 024 | 7 |
_a10.1186/1750-1172-8-74 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMorgan, Neil V | |
| 245 | 0 | 0 |
_aA combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease. _h[electronic resource] |
| 260 |
_bOrphanet journal of rare diseases _cMay 2013 |
||
| 300 |
_a74 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aBile Acids and Salts _xmetabolism |
| 650 | 0 | 4 |
_aCholestasis _xdiagnosis |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aDNA Helicases _xgenetics |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLiver Diseases _xdiagnosis |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aOxidoreductases _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 700 | 1 | _aHartley, Jane L | |
| 700 | 1 | _aSetchell, Kenneth D R | |
| 700 | 1 | _aSimpson, Michael A | |
| 700 | 1 | _aBrown, Rachel | |
| 700 | 1 | _aTee, Louise | |
| 700 | 1 | _aKirkham, Sian | |
| 700 | 1 | _aPasha, Shanaz | |
| 700 | 1 | _aTrembath, Richard C | |
| 700 | 1 | _aMaher, Eamonn R | |
| 700 | 1 | _aGissen, Paul | |
| 700 | 1 | _aKelly, Deirdre A | |
| 773 | 0 |
_tOrphanet journal of rare diseases _gvol. 8 _gp. 74 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/1750-1172-8-74 _zAvailable from publisher's website |
| 999 |
_c22756931 _d22756931 |
||