| 000 | 01732 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250517175918.0 | ||
| 264 | 0 | _c20180321 | |
| 008 | 201803s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/ddx297 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBrouillard, Pascal | |
| 245 | 0 | 0 |
_aLoss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _c11 2017 |
||
| 300 |
_a4095-4104 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aADAMTS Proteins _xdeficiency |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aConserved Sequence |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xgenetics |
| 650 | 0 | 4 |
_aEndothelial Cells _xmetabolism |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHEK293 Cells |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLymphangiectasis, Intestinal _xgenetics |
| 650 | 0 | 4 |
_aLymphedema _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aProcollagen N-Endopeptidase _xdeficiency |
| 650 | 0 | 4 |
_aVascular Endothelial Growth Factor C _xgenetics |
| 650 | 0 | 4 |
_aVascular Endothelial Growth Factor Receptor-3 _xgenetics |
| 700 | 1 | _aDupont, Laura | |
| 700 | 1 | _aHelaers, Raphael | |
| 700 | 1 | _aCoulie, Richard | |
| 700 | 1 | _aTiller, George E | |
| 700 | 1 | _aPeeden, Joseph | |
| 700 | 1 | _aColige, Alain | |
| 700 | 1 | _aVikkula, Miikka | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 26 _gno. 21 _gp. 4095-4104 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddx297 _zAvailable from publisher's website |
| 999 |
_c27638651 _d27638651 |
||