000			02057 a2200589 4500
005			20250516061326.0
264		0	_c20120423
008			201204s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.21632 _2doi
040			_aNLM _beng _cNLM
100	1		_aNakamura, Kotoka
245	0	0	_aFunctional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. _h[electronic resource]
260			_bHuman mutation _cJan 2012
300			_a198-208 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aAminoglycosides _xpharmacology
650	0	4	_aAsian People
650	0	4	_aAtaxia Telangiectasia _xdrug therapy
650	0	4	_aAtaxia Telangiectasia Mutated Proteins
650	0	4	_aBase Sequence
650	0	4	_aCell Cycle Proteins _xagonists
650	0	4	_aCell Line
650	0	4	_aCodon, Nonsense
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDNA-Binding Proteins _xagonists
650	0	4	_aExons
650	0	4	_aFrameshift Mutation
650	0	4	_aGentamicins _xpharmacology
650	0	4	_aHeterozygote
650	0	4	_aHumans
650	0	4	_aMolecular Sequence Data
650	0	4	_aMolecular Targeted Therapy
650	0	4	_aMorpholinos _xpharmacology
650	0	4	_aOligodeoxyribonucleotides, Antisense _xpharmacology
650	0	4	_aPedigree
650	0	4	_aProtein Serine-Threonine Kinases _xgenetics
650	0	4	_aRNA Splicing
650	0	4	_aSequence Deletion
650	0	4	_aT-Lymphocytes _xdrug effects
650	0	4	_aTumor Suppressor Proteins _xagonists
700	1		_aDu, Liutao
700	1		_aTunuguntla, Rashmi
700	1		_aFike, Francesca
700	1		_aCavalieri, Simona
700	1		_aMorio, Tomohiro
700	1		_aMizutani, Shuki
700	1		_aBrusco, Alfredo
700	1		_aGatti, Richard A
773	0		_tHuman mutation _gvol. 33 _gno. 1 _gp. 198-208
856	4	0	_uhttps://doi.org/10.1002/humu.21632 _zAvailable from publisher's website
999			_c21239179 _d21239179