000			01454 a2200433 4500
005			20250513124134.0
264		0	_c19970930
008			199709s 0 0 eng d
022			_a1018-4813
040			_aNLM _beng _cNLM
100	1		_aFernandes, M J
245	0	0	_aA chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts. _h[electronic resource]
260			_bEuropean journal of human genetics : EJHG _c
300			_a129-36 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAlleles
650	0	4	_aCell Line
650	0	4	_aDNA Primers
650	0	4	_aExons
650	0	4	_aFibroblasts _xcytology
650	0	4	_aG(M2) Ganglioside _xmetabolism
650	0	4	_aHexosaminidase A
650	0	4	_aHumans
650	0	4	_aMutation
650	0	4	_aPlasmids
650	0	4	_aPolymerase Chain Reaction
650	0	4	_aPolymorphism, Single-Stranded Conformational
650	0	4	_aRNA _xisolation & purification
650	0	4	_aRNA Splicing _xgenetics
650	0	4	_aRNA, Complementary
650	0	4	_aRNA, Messenger _xanalysis
650	0	4	_aSequence Analysis, DNA
650	0	4	_aTay-Sachs Disease _xgenetics
650	0	4	_abeta-N-Acetylhexosaminidases _xgenetics
700	1		_aHechtman, P
700	1		_aBoulay, B
700	1		_aKaplan, F
773	0		_tEuropean journal of human genetics : EJHG _gvol. 5 _gno. 3 _gp. 129-36
999			_c9252118 _d9252118