000			02166 a2200661 4500
005			20250516013137.0
264		0	_c20110118
008			201101s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2010.10.015 _2doi
040			_aNLM _beng _cNLM
100	1		_aVermeer, Sascha
245	0	0	_aTargeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. _h[electronic resource]
260			_bAmerican journal of human genetics _cDec 2010
300			_a813-9 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAnoctamin-1
650	0	4	_aCerebellar Ataxia _xgenetics
650	0	4	_aChloride Channels
650	0	4	_aGenes, Recessive
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aMembrane Proteins _xgenetics
650	0	4	_aMutation
650	0	4	_aNeoplasm Proteins _xgenetics
650	0	4	_aPolymorphism, Single Nucleotide
700	1		_aHoischen, Alexander
700	1		_aMeijer, Rowdy P P
700	1		_aGilissen, Christian
700	1		_aNeveling, Kornelia
700	1		_aWieskamp, Nienke
700	1		_ade Brouwer, Arjan
700	1		_aKoenig, Michel
700	1		_aAnheim, Mathieu
700	1		_aAssoum, Mirna
700	1		_aDrouot, Nathalie
700	1		_aTodorovic, Slobodanka
700	1		_aMilic-Rasic, Vedrana
700	1		_aLochmüller, Hanns
700	1		_aStevanin, Giovanni
700	1		_aGoizet, Cyril
700	1		_aDavid, Albert
700	1		_aDurr, Alexandra
700	1		_aBrice, Alexis
700	1		_aKremer, Berry
700	1		_avan de Warrenburg, Bart P C
700	1		_aSchijvenaars, Mascha M V A P
700	1		_aHeister, Angelien
700	1		_aKwint, Michael
700	1		_aArts, Peer
700	1		_avan der Wijst, Jenny
700	1		_aVeltman, Joris
700	1		_aKamsteeg, Erik-Jan
700	1		_aScheffer, Hans
700	1		_aKnoers, Nine
773	0		_tAmerican journal of human genetics _gvol. 87 _gno. 6 _gp. 813-9
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2010.10.015 _zAvailable from publisher's website
999			_c20389136 _d20389136