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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2017
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5670107/ https://www.ncbi.nlm.nih.gov/pubmed/29163336 http://dx.doi.org/10.3389/fneur.2017.00570

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