000			01713 a2200505 4500
005			20250513054925.0
264		0	_c19940729
008			199407s 0 0 eng d
022			_a0002-9297
040			_aNLM _beng _cNLM
100	1		_aHirschhorn, R
245	0	0	_aSomatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. _h[electronic resource]
260			_bAmerican journal of human genetics _cJul 1994
300			_a59-68 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aAdenosine Deaminase _xdeficiency
650	0	4	_aAlleles
650	0	4	_aArginine
650	0	4	_aB-Lymphocytes _xenzymology
650	0	4	_aBase Sequence
650	0	4	_aCell Line
650	0	4	_aChild, Preschool
650	0	4	_aChromosomes, Human, Pair 16
650	0	4	_aChromosomes, Human, Pair 20
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDeoxyadenine Nucleotides _xblood
650	0	4	_aElectrophoresis, Polyacrylamide Gel
650	0	4	_aGlutamine
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aMosaicism
650	0	4	_aPoint Mutation
650	0	4	_aRNA Splicing _xgenetics
650	0	4	_aRNA, Messenger _xgenetics
650	0	4	_aRemission, Spontaneous
650	0	4	_aRepetitive Sequences, Nucleic Acid
650	0	4	_aSevere Combined Immunodeficiency _xgenetics
650	0	4	_aY Chromosome
700	1		_aYang, D R
700	1		_aIsrani, A
700	1		_aHuie, M L
700	1		_aOwnby, D R
773	0		_tAmerican journal of human genetics _gvol. 55 _gno. 1 _gp. 59-68
999			_c8023182 _d8023182