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Kuznetsova MV, Trofimov DY, Shubina ES, et al. Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel. Front Neurol. 2017;8:570doi: 10.3389/fneur.2017.00570.
Kuznetsova, M. V., Trofimov, D. Y., Shubina, E. S., Kochetkova, T. O., Karetnikova, N. A., Barkov, I. Y., Bakharev, V. A., Gusev, O. A., & Sukhikh, G. T. (2017). Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel. Frontiers in neurology, 8570. https://doi.org/10.3389/fneur.2017.00570
Kuznetsova, Maria V, et al. "Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel." Frontiers in neurology vol. 8 (2017): 570. doi: https://doi.org/10.3389/fneur.2017.00570
Kuznetsova MV, Trofimov DY, Shubina ES, Kochetkova TO, Karetnikova NA, Barkov IY, Bakharev VA, Gusev OA, Sukhikh GT. Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel. Front Neurol. 2017 Oct 30;8:570. doi: 10.3389/fneur.2017.00570. eCollection 2017. PMID: 29163336; PMCID: PMC5670107.
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Front Neurol. 2017 Oct 30;8:570. doi: 10.3389/fneur.2017.00570. eCollection 2017.

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

Frontiers in neurology

Maria V Kuznetsova, Dmitry Yu Trofimov, Ekaterina S Shubina, Taisiya O Kochetkova, Natalia A Karetnikova, Ilya Yu Barkov, Vladimir A Bakharev, Oleg A Gusev, Gennady T Sukhikh

Affiliations

  1. Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia.
  2. Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russia.
  3. RIKEN Innovation Center, RIKEN, Yokohama, Japan.
  4. Preventive Medicine and Diagnosis Innovation Program, Center for Life Science Technologies, Yokohama, Japan.

PMID: 29163336 PMCID: PMC5670107 DOI: 10.3389/fneur.2017.00570

Abstract

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 term when the fetus is affected. Mutations in the

Keywords: ATM gene; IDP; Louis-Bar syndrome; ataxia-telangiectasia; prenatal diagnostic

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