000 01648 a2200469 4500
005 20250513063401.0
264 0 _c19940526
008 199405s 0 0 eng d
022 _a0028-4793
024 7 _a10.1056/NEJM199405263302104
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSaffran, D C
245 0 0 _aBrief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.
_h[electronic resource]
260 _bThe New England journal of medicine
_cMay 1994
300 _a1488-91 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650 0 4 _aAdult
650 0 4 _aAgammaglobulinaemia Tyrosine Kinase
650 0 4 _aAgammaglobulinemia
_xenzymology
650 0 4 _aAmino Acid Sequence
650 0 4 _aBase Sequence
650 0 4 _aCell Line, Transformed
650 0 4 _aEnzyme Stability
_xgenetics
650 0 4 _aFemale
650 0 4 _aGenetic Linkage
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMolecular Sequence Data
650 0 4 _aPoint Mutation
650 0 4 _aPolymerase Chain Reaction
650 0 4 _aProtein-Tyrosine Kinases
_xanalysis
650 0 4 _aRNA, Messenger
_xanalysis
650 0 4 _aX Chromosome
700 1 _aParolini, O
700 1 _aFitch-Hilgenberg, M E
700 1 _aRawlings, D J
700 1 _aAfar, D E
700 1 _aWitte, O N
700 1 _aConley, M E
773 0 _tThe New England journal of medicine
_gvol. 330
_gno. 21
_gp. 1488-91
856 4 0 _uhttps://doi.org/10.1056/NEJM199405263302104
_zAvailable from publisher's website
999 _c8164020
_d8164020