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. 2019 Jun 25;5(4):e346.
doi: 10.1212/NXG.0000000000000346. eCollection 2019 Aug.

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing

Martin Krenn  1 , Ivan Milenkovic  1 , Gertrud Eckstein  1 , Fritz Zimprich  1 , Thomas Meitinger  1 , Thomas Foki  1 , Matias Wagner  1
Affiliations

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing

Martin Krenn et al. Neurol Genet. .
No abstract available

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Figures

Figure
Figure. Brain MRT and molecular characterization of the splice-site variant c.1235+3A>G
(A) Brain MRI. Sagittal T2-weighted MRI of the reported index patient demonstrating moderate to severe cerebellar atrophy (white arrow). (B) Gel electrophoresis of PCR-amplified ATM cDNA showing 2 distinct splice variants as a result of the mutation c.1235+3A>G. (C) Subsequent Sanger sequencing of dissected bands further characterized the misspliced transcript with skipping of exon 9 (band II). (D) Photograph of the index patient's right cheek showing telangiectasia.
See this image and copyright information in PMC

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References

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