| 000 | 01828 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250516022606.0 | ||
| 264 | 0 | _c20110324 | |
| 008 | 201103s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.21413 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDenais, Celine | |
| 245 | 0 | 0 |
_aDymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development. _h[electronic resource] |
| 260 |
_bHuman mutation _cFeb 2011 |
||
| 300 |
_a231-9 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aBone Development |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 | _aChondrogenesis |
| 650 | 0 | 4 |
_aCytoplasm _xmetabolism |
| 650 | 0 | 4 |
_aDwarfism _xmetabolism |
| 650 | 0 | 4 |
_aExtracellular Matrix _xmetabolism |
| 650 | 0 | 4 |
_aFibroblasts _xmetabolism |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xmetabolism |
| 650 | 0 | 4 |
_aGolgi Apparatus _xmetabolism |
| 650 | 0 | 4 | _aHeLa Cells |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xmetabolism |
| 650 | 0 | 4 | _aIntracellular Signaling Peptides and Proteins |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xcongenital |
| 650 | 0 | 4 |
_aProteins _xmetabolism |
| 650 | 0 | 4 |
_aSkin _xcytology |
| 650 | 0 | 4 | _aTwo-Hybrid System Techniques |
| 650 | 0 | 4 |
_aZebrafish _xembryology |
| 700 | 1 | _aDent, Carolyn L | |
| 700 | 1 | _aSouthgate, Laura | |
| 700 | 1 | _aHoyle, Jacqueline | |
| 700 | 1 | _aDafou, Dimitra | |
| 700 | 1 | _aTrembath, Richard C | |
| 700 | 1 | _aMachado, Rajiv D | |
| 773 | 0 |
_tHuman mutation _gvol. 32 _gno. 2 _gp. 231-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.21413 _zAvailable from publisher's website |
| 999 |
_c20559641 _d20559641 |
||