Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia

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 transition in the first nucleotide of the intron 21 donor...

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Bibliographic Details
Main Authors: García-Pérez, M A, Allende, L M, Corell, A, Varela, P, Moreno, A A, Sotoca, A, Moreno, A, Paz-Artal, E, Barreiro, E, Arnaiz-Villena, A
Format: Artigo
Language:Inglês
Published: Blackwell Science Inc 2001
Subjects:
Immunodeficiency
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1906002/
https://ncbi.nlm.nih.gov/pubmed/11298136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1046/j.1365-2249.2001.01452.x
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