TY  - JOUR
AU  - García Pérez, Miguel Ángel
AU  - Allende Martínez, Luis Miguel
AU  - Corell, A.
AU  - Varela, P.
AU  - Moreno, A. A.
AU  - Sotoca, Andrés
AU  - Moreno, Ángel
AU  - Paz Artal, Estela Natividad
AU  - Barreiro, E.
AU  - Arnaiz Villena, Antonio
PY  - 2001
DO  - 10.1046/j.1365-2249.2001.01452.x
SN  - 1365-2249
SN  - 0009-9104
UR  - https://hdl.handle.net/20.500.14352/98064
T2  - Clinical and Experimental Immunology
AB  - Summary: Three ataxia telangiectasia (AT) patients have been characterized immunologically and molecularly. Patient 1 presents two nondescribed splicing mutations which affect exons 15 and 21 of the ATM gene. The maternal defect consists of a G>A...
LA  - eng
M2  - 472
PB  - Oxford University Press
KW  - ataxia-telangiectasia
KW  - PKC
KW  - PMA
KW  - immunodeficiencies
TI  - Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia
TY  - journal article
VL  - 123
ER  -