| 000 | 01769 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250516125439.0 | ||
| 264 | 0 | _c20130715 | |
| 008 | 201307s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2012.12.001 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCalton, Elizabeth A | |
| 245 | 0 | 0 |
_aHepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cFeb 2013 |
||
| 300 |
_a114-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aATP-Binding Cassette Transporters _xgenetics |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 11 |
| 650 | 0 | 4 |
_aCongenital Hyperinsulinism _xcomplications |
| 650 | 0 | 4 |
_aHepatoblastoma _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLiver Neoplasms _xdiagnosis |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMicrosatellite Repeats |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPositron-Emission Tomography |
| 650 | 0 | 4 |
_aPotassium Channels, Inwardly Rectifying _xgenetics |
| 650 | 0 | 4 |
_aReceptors, Drug _xgenetics |
| 650 | 0 | 4 | _aSulfonylurea Receptors |
| 650 | 0 | 4 | _aTomography, X-Ray Computed |
| 650 | 0 | 4 | _aUniparental Disomy |
| 700 | 1 | _aTemple, I Karen | |
| 700 | 1 | _aMackay, Deborah J G | |
| 700 | 1 | _aLever, Margaret | |
| 700 | 1 | _aEllard, Sian | |
| 700 | 1 | _aFlanagan, Sarah E | |
| 700 | 1 | _aDavies, Justin H | |
| 700 | 1 | _aHussain, Khalid | |
| 700 | 1 | _aGray, Juliet C | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 56 _gno. 2 _gp. 114-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2012.12.001 _zAvailable from publisher's website |
| 999 |
_c22366807 _d22366807 |
||