000			02078 a2200613 4500
005			20250513235330.0
264		0	_c20010628
008			200106s 0 0 eng d
022			_a1018-4813
024	7		_a10.1038/sj.ejhg.5200599 _2doi
040			_aNLM _beng _cNLM
100	1		_aSossi, V
245	0	0	_aPremature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. _h[electronic resource]
260			_bEuropean journal of human genetics : EJHG _cFeb 2001
300			_a113-20 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdult
650	0	4	_aAminoglycosides
650	0	4	_aAnti-Bacterial Agents _xpharmacology
650	0	4	_aBlotting, Southern
650	0	4	_aBlotting, Western
650	0	4	_aChild, Preschool
650	0	4	_aCloning, Molecular
650	0	4	_aCyclic AMP Response Element-Binding Protein
650	0	4	_aDNA Primers _xchemistry
650	0	4	_aExons
650	0	4	_aFemale
650	0	4	_aFibroblasts _xdrug effects
650	0	4	_aFluorescent Antibody Technique
650	0	4	_aGenotype
650	0	4	_aHumans
650	0	4	_aIn Situ Hybridization, Fluorescence
650	0	4	_aMale
650	0	4	_aMuscular Atrophy, Spinal _xgenetics
650	0	4	_aMutation
650	0	4	_aNerve Tissue Proteins _xgenetics
650	0	4	_aProtein Isoforms
650	0	4	_aRNA-Binding Proteins
650	0	4	_aReverse Transcriptase Polymerase Chain Reaction
650	0	4	_aSMN Complex Proteins
650	0	4	_aSequence Analysis, DNA
650	0	4	_aSequence Deletion
650	0	4	_aSurvival of Motor Neuron 1 Protein
650	0	4	_aSurvival of Motor Neuron 2 Protein
700	1		_aGiuli, A
700	1		_aVitali, T
700	1		_aTiziano, F
700	1		_aMirabella, M
700	1		_aAntonelli, A
700	1		_aNeri, G
700	1		_aBrahe, C
773	0		_tEuropean journal of human genetics : EJHG _gvol. 9 _gno. 2 _gp. 113-20
856	4	0	_uhttps://doi.org/10.1038/sj.ejhg.5200599 _zAvailable from publisher's website
999			_c11248166 _d11248166