| 000 | 01583 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250516204817.0 | ||
| 264 | 0 | _c20150123 | |
| 008 | 201501s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.22555 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCooper, Paige E | |
| 245 | 0 | 0 |
_aCantú syndrome resulting from activating mutation in the KCNJ8 gene. _h[electronic resource] |
| 260 |
_bHuman mutation _cJul 2014 |
||
| 300 |
_a809-13 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aCardiomegaly _xdiagnosis |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypertrichosis _xdiagnosis |
| 650 | 0 | 4 |
_aKATP Channels _xchemistry |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMembrane Potentials |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xdiagnosis |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aProtein Conformation |
| 700 | 1 | _aReutter, Heiko | |
| 700 | 1 | _aWoelfle, Joachim | |
| 700 | 1 | _aEngels, Hartmut | |
| 700 | 1 | _aGrange, Dorothy K | |
| 700 | 1 | _avan Haaften, Gijs | |
| 700 | 1 | _avan Bon, Bregje W | |
| 700 | 1 | _aHoischen, Alexander | |
| 700 | 1 | _aNichols, Colin G | |
| 773 | 0 |
_tHuman mutation _gvol. 35 _gno. 7 _gp. 809-13 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22555 _zAvailable from publisher's website |
| 999 |
_c23706965 _d23706965 |
||