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Corrigendum to “Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing”
Joint Authors
Høyer, Helle
Hilmarsen, Hilde T.
Holla, Øystein L.
Busk, Øyvind L.
Skjelbred, Camilla F.
Braathen, Geir J.
Russell, Michael B.
Strand, Linda
Svendsen, Marit
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-2, 2 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-10-08
Country of Publication
Egypt
No. of Pages
2
Main Subjects
Abstract EN
In Table 4 and Supplemental Table 1 of the published paper entitled “Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing” [1], we classified two variants as likely pathogenic.
These two variants (NM_001126131.1:c.[1491G>C(;)2243G>C]), identified in the POLG gene, were carried by one patient (ID 62).
As it was not possible to examine whether the two variants were in cis or trans, that is, situated on the same or different alleles, these two variants should have been reported as uncertain pathogenic variants.
American Psychological Association (APA)
Høyer, Helle& Braathen, Geir J.& Busk, Øyvind L.& Holla, Øystein L.& Svendsen, Marit& Hilmarsen, Hilde T.…[et al.]. 2015. Corrigendum to “Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing”. BioMed Research International،Vol. 2015, no. 2015, pp.1-2.
https://search.emarefa.net/detail/BIM-1055010
Modern Language Association (MLA)
Høyer, Helle…[et al.]. Corrigendum to “Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing”. BioMed Research International No. 2015 (2015), pp.1-2.
https://search.emarefa.net/detail/BIM-1055010
American Medical Association (AMA)
Høyer, Helle& Braathen, Geir J.& Busk, Øyvind L.& Holla, Øystein L.& Svendsen, Marit& Hilmarsen, Hilde T.…[et al.]. Corrigendum to “Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing”. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-2.
https://search.emarefa.net/detail/BIM-1055010
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1055010