Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience

Ataxia telangiectasia (AT) is a genetic condition caused by mutations involving ATM (Ataxia Telangiectasia Mutated). This gene is responsible for the expression of a DNA double stranded break repair kinase, the ATM protein kinase. The syndrome encompasses combined immunodeficiency and various degree...

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Detalles Bibliográficos
Autores principales: Mandola, Amarilla B., Reid, Brenda, Sirror, Raga, Brager, Rae, Dent, Peter, Chakroborty, Pranesh, Bulman, Dennis E., Roifman, Chaim M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6932992/
https://www.ncbi.nlm.nih.gov/pubmed/31921190
http://dx.doi.org/10.3389/fimmu.2019.02940

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6932992/
https://www.ncbi.nlm.nih.gov/pubmed/31921190
http://dx.doi.org/10.3389/fimmu.2019.02940

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