| 000 | 01651 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250516173217.0 | ||
| 264 | 0 | _c20140512 | |
| 008 | 201405s 0 0 eng d | ||
| 022 | _a1932-6203 | ||
| 024 | 7 |
_a10.1371/journal.pone.0075137 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHamajima, Naoki | |
| 245 | 0 | 0 |
_aIncreased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome. _h[electronic resource] |
| 260 |
_bPloS one _c2013 |
||
| 300 |
_ae75137 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdrenal Insufficiency |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aBlotting, Western |
| 650 | 0 | 4 |
_aCyclin-Dependent Kinase Inhibitor p57 _xgenetics |
| 650 | 0 | 4 | _aCycloheximide |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFetal Growth Retardation |
| 650 | 0 | 4 | _aFlow Cytometry |
| 650 | 0 | 4 | _aGene Components |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLeupeptins |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aOsteochondrodysplasias |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aProliferating Cell Nuclear Antigen _xmetabolism |
| 650 | 0 | 4 | _aProtein Stability |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSiblings |
| 650 | 0 | 4 | _aUrogenital Abnormalities |
| 700 | 1 | _aJohmura, Yoshikazu | |
| 700 | 1 | _aSuzuki, Satoshi | |
| 700 | 1 | _aNakanishi, Makoto | |
| 700 | 1 | _aSaitoh, Shinji | |
| 773 | 0 |
_tPloS one _gvol. 8 _gno. 9 _gp. e75137 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1371/journal.pone.0075137 _zAvailable from publisher's website |
| 999 |
_c23145713 _d23145713 |
||