| 000 | 02447 a2200709 4500 | ||
|---|---|---|---|
| 005 | 20250517103756.0 | ||
| 264 | 0 | _c20180822 | |
| 008 | 201808s 0 0 eng d | ||
| 022 | _a2041-1723 | ||
| 024 | 7 |
_a10.1038/ncomms11920 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLindert, Uschi | |
| 245 | 0 | 0 |
_aMBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. _h[electronic resource] |
| 260 |
_bNature communications _c07 2016 |
||
| 300 |
_a11920 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aActivating Transcription Factor 6 _xgenetics |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 | _aCell Differentiation |
| 650 | 0 | 4 |
_aCell Membrane _xmetabolism |
| 650 | 0 | 4 |
_aCollagen Type I _xdeficiency |
| 650 | 0 | 4 |
_aCyclic AMP Response Element-Binding Protein _xgenetics |
| 650 | 0 | 4 | _aGene Expression Regulation |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aHydroxylation |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMetalloendopeptidases _xgenetics |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 |
_aOsteoblasts _xmetabolism |
| 650 | 0 | 4 |
_aOsteogenesis Imperfecta _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aProcollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase _xgenetics |
| 650 | 0 | 4 | _aProteolysis |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 650 | 0 | 4 |
_aSterol Regulatory Element Binding Proteins _xgenetics |
| 700 | 1 | _aCabral, Wayne A | |
| 700 | 1 | _aAusavarat, Surasawadee | |
| 700 | 1 | _aTongkobpetch, Siraprapa | |
| 700 | 1 | _aLudin, Katja | |
| 700 | 1 | _aBarnes, Aileen M | |
| 700 | 1 | _aYeetong, Patra | |
| 700 | 1 | _aWeis, Maryann | |
| 700 | 1 | _aKrabichler, Birgit | |
| 700 | 1 | _aSrichomthong, Chalurmpon | |
| 700 | 1 | _aMakareeva, Elena N | |
| 700 | 1 | _aJanecke, Andreas R | |
| 700 | 1 | _aLeikin, Sergey | |
| 700 | 1 | _aRöthlisberger, Benno | |
| 700 | 1 | _aRohrbach, Marianne | |
| 700 | 1 | _aKennerknecht, Ingo | |
| 700 | 1 | _aEyre, David R | |
| 700 | 1 | _aSuphapeetiporn, Kanya | |
| 700 | 1 | _aGiunta, Cecilia | |
| 700 | 1 | _aMarini, Joan C | |
| 700 | 1 | _aShotelersuk, Vorasuk | |
| 773 | 0 |
_tNature communications _gvol. 7 _gp. 11920 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ncomms11920 _zAvailable from publisher's website |
| 999 |
_c26193637 _d26193637 |
||