Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia

Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder. It is characterized by early-onset, progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, conjunctival telangiectasias, immunodeficiency, and an increased risk of malignancy. Although A-T is known to...

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Autores principales: Huh, Hee Jae, Cho, Kyoo-ho, Lee, Ji Eun, Kwon, Min-Jung, Ki, Chang-Seok, Lee, Phil Hyu
Formato: Artigo
Lenguaje:Inglês
Publicado: The Korean Society for Laboratory Medicine 2013
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3646200/
https://ncbi.nlm.nih.gov/pubmed/23667852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2013.33.3.217
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