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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Science Inc 2001
Assuntos:
Immunodeficiency
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados