Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel

Ataxia-telangiectasia (A-T), or Louis-Bar syndrome, is a rare neurodegenerative disorder associated with immunodeficiency. For families with at least one affected child, timely A-T genotyping during any subsequent pregnancy allows the parents to make an informed decision about whether to continue to...

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Detalhes bibliográficos
Publicado no:Front Neurol
Main Authors: Kuznetsova, Maria V., Trofimov, Dmitry Yu., Shubina, Ekaterina S., Kochetkova, Taisiya O., Karetnikova, Natalia A., Barkov, Ilya Yu., Bakharev, Vladimir A., Gusev, Oleg A., Sukhikh, Gennady T.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2017
Assuntos:
Neuroscience
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5670107/
https://ncbi.nlm.nih.gov/pubmed/29163336
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2017.00570
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