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