000			02220 a2200685 4500
005			20250515202109.0
264		0	_c20100217
008			201002s 0 0 eng d
022			_a1546-1718
024	7		_a10.1038/ng.508 _2doi
040			_aNLM _beng _cNLM
100	1		_aAuer-Grumbach, Michaela
245	0	0	_aAlterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. _h[electronic resource]
260			_bNature genetics _cFeb 2010
300			_a160-4 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Substitution _xgenetics
650	0	4	_aAnkyrin Repeat
650	0	4	_aCalcium _xmetabolism
650	0	4	_aHeLa Cells
650	0	4	_aHereditary Sensory and Motor Neuropathy _xcomplications
650	0	4	_aHumans
650	0	4	_aImmunohistochemistry
650	0	4	_aIntracellular Space _xmetabolism
650	0	4	_aIon Channel Gating
650	0	4	_aModels, Molecular
650	0	4	_aMolecular Sequence Data
650	0	4	_aMuscular Atrophy, Spinal _xcomplications
650	0	4	_aMutant Proteins _xmetabolism
650	0	4	_aMutation _xgenetics
650	0	4	_aOsmosis
650	0	4	_aTRPV Cation Channels _xchemistry
650	0	4	_aTransfection
700	1		_aOlschewski, Andrea
700	1		_aPapić, Lea
700	1		_aKremer, Hannie
700	1		_aMcEntagart, Meriel E
700	1		_aUhrig, Sabine
700	1		_aFischer, Carina
700	1		_aFröhlich, Eleonore
700	1		_aBálint, Zoltán
700	1		_aTang, Bi
700	1		_aStrohmaier, Heimo
700	1		_aLochmüller, Hanns
700	1		_aSchlotter-Weigel, Beate
700	1		_aSenderek, Jan
700	1		_aKrebs, Angelika
700	1		_aDick, Katherine J
700	1		_aPetty, Richard
700	1		_aLongman, Cheryl
700	1		_aAnderson, Neil E
700	1		_aPadberg, George W
700	1		_aSchelhaas, Helenius J
700	1		_avan Ravenswaaij-Arts, Conny M A
700	1		_aPieber, Thomas R
700	1		_aCrosby, Andrew H
700	1		_aGuelly, Christian
773	0		_tNature genetics _gvol. 42 _gno. 2 _gp. 160-4
856	4	0	_uhttps://doi.org/10.1038/ng.508 _zAvailable from publisher's website
999			_c19417557 _d19417557