| 000 | 01747 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250515081147.0 | ||
| 264 | 0 | _c20071121 | |
| 008 | 200711s 0 0 eng d | ||
| 022 | _a1769-7212 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2007.06.005 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBrun-Heath, Isabelle | |
| 245 | 0 | 0 |
_aDelayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _c |
||
| 300 |
_a367-78 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAlkaline Phosphatase _xchemistry |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aBiological Transport, Active |
| 650 | 0 | 4 | _aCOS Cells |
| 650 | 0 | 4 |
_aCell Membrane _xenzymology |
| 650 | 0 | 4 | _aChlorocebus aethiops |
| 650 | 0 | 4 |
_aDNA Primers _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGolgi Apparatus _xenzymology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypophosphatemia, Familial _xenzymology |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMicroscopy, Fluorescence |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aPlasmids _xgenetics |
| 650 | 0 | 4 |
_aRecombinant Fusion Proteins _xchemistry |
| 650 | 0 | 4 | _aTransfection |
| 700 | 1 | _aLia-Baldini, Anne-Sophie | |
| 700 | 1 | _aMaillard, Stéphane | |
| 700 | 1 | _aTaillandier, Agnès | |
| 700 | 1 | _aUtsch, Boris | |
| 700 | 1 | _aNunes, Mark E | |
| 700 | 1 | _aSerre, Jean-Louis | |
| 700 | 1 | _aMornet, Etienne | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 50 _gno. 5 _gp. 367-78 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2007.06.005 _zAvailable from publisher's website |
| 999 |
_c17250170 _d17250170 |
||