| 000 | 01896 a2200553 4500 | ||
|---|---|---|---|
| 005 | 20250516151429.0 | ||
| 264 | 0 | _c20140122 | |
| 008 | 201401s 0 0 eng d | ||
| 022 | _a1096-7206 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2013.04.014 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRohrbach, Marianne | |
| 245 | 0 | 0 |
_aZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cJul 2013 |
||
| 300 |
_a289-95 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aEhlers-Danlos Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 |
_aExtracellular Matrix _xgenetics |
| 650 | 0 | 4 | _aEye Abnormalities |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Expression Regulation |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aJoint Instability _xcongenital |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aSkin Abnormalities |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aSpencer, Helen L | |
| 700 | 1 | _aPorter, Louise F | |
| 700 | 1 | _aBurkitt-Wright, Emma M M | |
| 700 | 1 | _aBürer, Céline | |
| 700 | 1 | _aJanecke, Andreas | |
| 700 | 1 | _aBakshi, Madhura | |
| 700 | 1 | _aSillence, David | |
| 700 | 1 | _aAl-Hussain, Hailah | |
| 700 | 1 | _aBaumgartner, Matthias | |
| 700 | 1 | _aSteinmann, Beat | |
| 700 | 1 | _aBlack, Graeme C M | |
| 700 | 1 | _aManson, Forbes D C | |
| 700 | 1 | _aGiunta, Cecilia | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 109 _gno. 3 _gp. 289-95 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2013.04.014 _zAvailable from publisher's website |
| 999 |
_c22757330 _d22757330 |
||