Sökning: "Aleksi Lähdesmäki"

Hittade 1 avhandling innehållade orden Aleksi Lähdesmäki.

1. 1. Functional analysis of ATM with relevance for primary immunodeficiency and tumor formation

   Författare :Aleksi Lähdesmäki; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Ataxia-telangiectasia is a rare autosomal recessive disorder characterized by cerebellar degeneration with ataxia, ocular and cutaneous telangiectasias, radiosensitivity, chromosomal instability, immunodeficiency, and cancer predisposition in both patients and heterozygous carriers of the gene. The gene responsible for the disorder, ATM, has been identified as a member of a family of phosphatidylinositol 3-kinaserelated genes and is one of the master controllers of the networks that are involved in cell cycle control and response to DNA damage. LÄS MER