000			02064 a2200613 4500
005			20250513121642.0
264		0	_c19970710
008			199707s 0 0 eng d
022			_a0002-9297
024	7		_a10.1086/515465 _2doi
040			_aNLM _beng _cNLM
100	1		_aMcAndrew, P E
245	0	0	_aIdentification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. _h[electronic resource]
260			_bAmerican journal of human genetics _cJun 1997
300			_a1411-22 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Sequence
650	0	4	_aBase Sequence
650	0	4	_aChromosome Mapping
650	0	4	_aChromosomes, Human, Pair 5
650	0	4	_aCloning, Molecular
650	0	4	_aCyclic AMP Response Element-Binding Protein
650	0	4	_aCystic Fibrosis Transmembrane Conductance Regulator _xgenetics
650	0	4	_aDNA _xblood
650	0	4	_aDNA Primers
650	0	4	_aExons
650	0	4	_aFemale
650	0	4	_aGene Dosage
650	0	4	_aGenetic Carrier Screening
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMotor Neurons _xpathology
650	0	4	_aMuscular Atrophy, Spinal _xdiagnosis
650	0	4	_aNerve Tissue Proteins _xgenetics
650	0	4	_aNucleic Acid Heteroduplexes _xgenetics
650	0	4	_aPedigree
650	0	4	_aPolymerase Chain Reaction
650	0	4	_aRNA-Binding Proteins
650	0	4	_aRisk Assessment
650	0	4	_aSMN Complex Proteins
650	0	4	_aSpinal Cord _xpathology
650	0	4	_aSurvival of Motor Neuron 1 Protein
650	0	4	_aSurvival of Motor Neuron 2 Protein
650	0	4	_aTranscription, Genetic
700	1		_aParsons, D W
700	1		_aSimard, L R
700	1		_aRochette, C
700	1		_aRay, P N
700	1		_aMendell, J R
700	1		_aPrior, T W
700	1		_aBurghes, A H
773	0		_tAmerican journal of human genetics _gvol. 60 _gno. 6 _gp. 1411-22
856	4	0	_uhttps://doi.org/10.1086/515465 _zAvailable from publisher's website
999			_c9180078 _d9180078