| 000 | 01655 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250516054336.0 | ||
| 264 | 0 | _c20120315 | |
| 008 | 201203s 0 0 eng d | ||
| 022 | _a1096-7206 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2011.08.021 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAchouitar, Samira | |
| 245 | 0 | 0 |
_aCommon mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cDec 2011 |
||
| 300 |
_a691-4 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFounder Effect |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 |
_aHepatomegaly _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPhosphorylase Kinase _xdeficiency |
| 700 | 1 | _aGoldstein, Jennifer L | |
| 700 | 1 | _aMohamed, Miski | |
| 700 | 1 | _aAustin, Stephanie | |
| 700 | 1 | _aBoyette, Keri | |
| 700 | 1 | _aBlanpain, Francoise M | |
| 700 | 1 | _aRehder, Catherine W | |
| 700 | 1 | _aKishnani, Priya S | |
| 700 | 1 | _aWortmann, Saskia B | |
| 700 | 1 | _aden Heijer, Martin | |
| 700 | 1 | _aLefeber, Dirk J | |
| 700 | 1 | _aWevers, Ron A | |
| 700 | 1 | _aBali, Deeksha S | |
| 700 | 1 | _aMorava, Eva | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 104 _gno. 4 _gp. 691-4 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2011.08.021 _zAvailable from publisher's website |
| 999 |
_c21151099 _d21151099 |
||