000 | 02014 a2200589 4500 | ||
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005 | 20250516014153.0 | ||
264 | 0 | _c20110118 | |
008 | 201101s 0 0 eng d | ||
022 | _a1537-6605 | ||
024 | 7 |
_a10.1016/j.ajhg.2010.10.003 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aLi, Yun | |
245 | 0 | 0 |
_aTemtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. _h[electronic resource] |
260 |
_bAmerican journal of human genetics _cDec 2010 |
||
300 |
_a757-67 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAnimals |
650 | 0 | 4 |
_aBone Morphogenetic Proteins _xmetabolism |
650 | 0 | 4 | _aBrachydactyly |
650 | 0 | 4 | _aChromosome Mapping |
650 | 0 | 4 | _aChromosomes, Human, Pair 15 |
650 | 0 | 4 |
_aFoot Deformities, Congenital _xgenetics |
650 | 0 | 4 |
_aHand Deformities, Congenital _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aN-Acetylgalactosaminyltransferases _xgenetics |
650 | 0 | 4 | _aSignal Transduction |
650 | 0 | 4 | _aSyndrome |
650 | 0 | 4 | _aZebrafish |
700 | 1 | _aLaue, Kathrin | |
700 | 1 | _aTemtamy, Samia | |
700 | 1 | _aAglan, Mona | |
700 | 1 | _aKotan, L Damla | |
700 | 1 | _aYigit, Gökhan | |
700 | 1 | _aCanan, Husniye | |
700 | 1 | _aPawlik, Barbara | |
700 | 1 | _aNürnberg, Gudrun | |
700 | 1 | _aWakeling, Emma L | |
700 | 1 | _aQuarrell, Oliver W | |
700 | 1 | _aBaessmann, Ingelore | |
700 | 1 | _aLanktree, Matthew B | |
700 | 1 | _aYilmaz, Mustafa | |
700 | 1 | _aHegele, Robert A | |
700 | 1 | _aAmr, Khalda | |
700 | 1 | _aMay, Klaus W | |
700 | 1 | _aNürnberg, Peter | |
700 | 1 | _aTopaloglu, A Kemal | |
700 | 1 | _aHammerschmidt, Matthias | |
700 | 1 | _aWollnik, Bernd | |
773 | 0 |
_tAmerican journal of human genetics _gvol. 87 _gno. 6 _gp. 757-67 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2010.10.003 _zAvailable from publisher's website |
999 |
_c20421114 _d20421114 |