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Title: [Ataxia telangiectasia. Diagnosis and follow-up in 4 cases]
Other Titles: Ataxia telangiectasia. Diagnostico y seguimiento en una serie de cuatro casos.
Author: Monterrubio Ledezma, C.E.
Corona Rivera, A.
Corona Rivera, J.R.
Rodr�guez Casillas, L.J.
Hern�ndez Rocha, J.
Barros Nunez, P.
Bobadilla Morales L
Issue Date: 2013
Abstract: Ataxia telangiectasia (AT) is a chromosomal instability syndrome with autosomal recessive inheritance, it is caused by more than 500 mutations of the ATM gene, which is involved in the cellular response to DNA damage. The diagnosis becomes difficult due to the evolution of the disease, their poor knowledge, and limited access to diagnostic tests. Chromosomal damage induced by ionizing radiation (IR) assay is still a sensitive method for early diagnosis, and it is essential for better management and genetic counseling. This paper shows diagnosis and follow-up in four cases with AT.
ISSN: 0016-3813; 0016-3813
Appears in Collections:Producción científica UdeG

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