000 | 02216 a2200685 4500 | ||
---|---|---|---|
005 | 20250515172344.0 | ||
264 | 0 | _c20090702 | |
008 | 200907s 0 0 eng d | ||
022 | _a1537-6605 | ||
024 | 7 |
_a10.1016/j.ajhg.2009.04.017 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aArmistead, Joy | |
245 | 0 | 0 |
_aMutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. _h[electronic resource] |
260 |
_bAmerican journal of human genetics _cJun 2009 |
||
300 |
_a728-39 p. _bdigital |
||
500 | _aPublication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAmino Acid Sequence |
650 | 0 | 4 | _aAnimals |
650 | 0 | 4 | _aCase-Control Studies |
650 | 0 | 4 | _aCell Line |
650 | 0 | 4 |
_aChromosomes, Human, Pair 12 _xgenetics |
650 | 0 | 4 | _aCricetinae |
650 | 0 | 4 |
_aDNA-Directed RNA Polymerases _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aFetal Growth Retardation _xgenetics |
650 | 0 | 4 |
_aFibroblasts _xcytology |
650 | 0 | 4 | _aGenes, Recessive |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aImmunoblotting |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aModels, Molecular |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 | _aOrganelle Biogenesis |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aProtein Conformation |
650 | 0 | 4 |
_aPsychomotor Disorders _xgenetics |
650 | 0 | 4 |
_aRNA, Messenger _xgenetics |
650 | 0 | 4 |
_aRibosomes _xgenetics |
650 | 0 | 4 | _aSequence Homology, Amino Acid |
650 | 0 | 4 | _aSyndrome |
650 | 0 | 4 | _aTwo-Hybrid System Techniques |
700 | 1 | _aKhatkar, Sunita | |
700 | 1 | _aMeyer, Britta | |
700 | 1 | _aMark, Brian L | |
700 | 1 | _aPatel, Nehal | |
700 | 1 | _aCoghlan, Gail | |
700 | 1 | _aLamont, Ryan E | |
700 | 1 | _aLiu, Shuangbo | |
700 | 1 | _aWiechert, Jill | |
700 | 1 | _aCattini, Peter A | |
700 | 1 | _aKoetter, Peter | |
700 | 1 | _aWrogemann, Klaus | |
700 | 1 | _aGreenberg, Cheryl R | |
700 | 1 | _aEntian, Karl-Dieter | |
700 | 1 | _aZelinski, Teresa | |
700 | 1 | _aTriggs-Raine, Barbara | |
773 | 0 |
_tAmerican journal of human genetics _gvol. 84 _gno. 6 _gp. 728-39 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2009.04.017 _zAvailable from publisher's website |
999 |
_c18889958 _d18889958 |