000 02249 a2200697 4500
005 20250516063742.0
264 0 _c20120221
008 201202s 0 0 eng d
022 _a1537-6605
024 7 _a10.1016/j.ajhg.2011.10.007
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aWeber, Stefanie
245 0 0 _aMuscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
_h[electronic resource]
260 _bAmerican journal of human genetics
_cNov 2011
300 _a668-74 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAnimals
650 0 4 _aBase Sequence
650 0 4 _aConsanguinity
650 0 4 _aFemale
650 0 4 _aFrameshift Mutation
_xgenetics
650 0 4 _aHumans
650 0 4 _aINDEL Mutation
_xgenetics
650 0 4 _aImmunohistochemistry
650 0 4 _aMale
650 0 4 _aMetabolism, Inborn Errors
_xgenetics
650 0 4 _aMice
650 0 4 _aMice, Knockout
650 0 4 _aModels, Molecular
650 0 4 _aPrune Belly Syndrome
_xgenetics
650 0 4 _aReceptor, Muscarinic M3
_xdeficiency
650 0 4 _aSequence Homology, Nucleic Acid
650 0 4 _aSex Factors
650 0 4 _aUrinary Bladder
_xembryology
650 0 4 _aUrinary Bladder Neck Obstruction
_xgenetics
700 1 _aThiele, Holger
700 1 _aMir, Sevgi
700 1 _aToliat, Mohammad Reza
700 1 _aSozeri, Betül
700 1 _aReutter, Heiko
700 1 _aDraaken, Markus
700 1 _aLudwig, Michael
700 1 _aAltmüller, Janine
700 1 _aFrommolt, Peter
700 1 _aStuart, Helen M
700 1 _aRanjzad, Parisa
700 1 _aHanley, Neil A
700 1 _aJennings, Rachel
700 1 _aNewman, William G
700 1 _aWilcox, Duncan T
700 1 _aThiel, Uwe
700 1 _aSchlingmann, Karl Peter
700 1 _aBeetz, Rolf
700 1 _aHoyer, Peter F
700 1 _aKonrad, Martin
700 1 _aSchaefer, Franz
700 1 _aNürnberg, Peter
700 1 _aWoolf, Adrian S
773 0 _tAmerican journal of human genetics
_gvol. 89
_gno. 5
_gp. 668-74
856 4 0 _uhttps://doi.org/10.1016/j.ajhg.2011.10.007
_zAvailable from publisher's website
999 _c21306413
_d21306413