000			01878 a2200517 4500
005			20250514204210.0
264		0	_c20050729
008			200507s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.20092 _2doi
040			_aNLM _beng _cNLM
100	1		_aClermont, Olivier
245	0	0	_aMolecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. _h[electronic resource]
260			_bHuman mutation _cNov 2004
300			_a417-27 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAutomation
650	0	4	_aChromatography, High Pressure Liquid
650	0	4	_aChromosomes, Human, Pair 5 _xgenetics
650	0	4	_aCyclic AMP Response Element-Binding Protein _xgenetics
650	0	4	_aDNA Mutational Analysis _xmethods
650	0	4	_aGenetic Testing _xmethods
650	0	4	_aHaplotypes _xgenetics
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aMolecular Sequence Data
650	0	4	_aMuscular Atrophy, Spinal _xgenetics
650	0	4	_aMutation _xgenetics
650	0	4	_aNerve Tissue Proteins _xgenetics
650	0	4	_aPolymerase Chain Reaction
650	0	4	_aRNA-Binding Proteins _xgenetics
650	0	4	_aSMN Complex Proteins
650	0	4	_aSensitivity and Specificity
650	0	4	_aSequence Deletion _xgenetics
650	0	4	_aSurvival of Motor Neuron 1 Protein
650	0	4	_aSurvival of Motor Neuron 2 Protein
650	0	4	_aTime Factors
700	1		_aBurlet, Philippe
700	1		_aBenit, Paule
700	1		_aChanterau, Dominique
700	1		_aSaugier-Veber, Pascale
700	1		_aMunnich, Arnold
700	1		_aCusin, Veronica
773	0		_tHuman mutation _gvol. 24 _gno. 5 _gp. 417-27
856	4	0	_uhttps://doi.org/10.1002/humu.20092 _zAvailable from publisher's website
999			_c15151964 _d15151964