Research output per year
Research output per year
Lisa M van den Bersselaar, Judith M A Verhagen, Jos A Bekkers, Marlies Kempers, Arjan C Houweling, Marieke Baars, Eline Overwater, Yvonne Hilhorst-Hofstee, Daniela Q C M Barge-Schaapveld, Eline Rompen, Ingrid P C Krapels, Eelco Dulfer, Marja W Wessels, Bart L Loeys, Hence J M Verhagen, Alessandra Maugeri, Jolien W Roos-Hesselink, Hennie T Brüggenwirth, Ingrid M B H van de Laar*
Research output: Contribution to journal › Erratum / corrigendum / retractions › Academic
Correction to: Genetics in Medicine 2022; https://doi.org/10.1016/j.gim.2022.07.009, published online 2 September 2022. In the article “Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort” (Genet Med 2022;24:2112-2122), the following updates were made. On page 2114 (Molecular studies section), the sentence “Functional assay for the splice variant p.[Ala206Gly,Glu207_Ile269del] showed no aberrant splicing and an equal presence of both alleles.” was changed to “Functional assay for the splice variant c.808G>A showed aberrant splicing and an (in frame) exon 7 mRNA deletion, with equal presence of both alleles (Table 2).” On page 2115 (Table 2), in the “Protein Change” column “p.[Ala206Gly,Glu207_Ile269del]” was changed to “p.[Gly270Arg] e and p.[p.Ala206_Ile269del] f.” In the list of footnotes at the bottom of Table 2, “ er.808g>a, both outcomes of the variant c.808G>A” and “fr.617_808del, both outcomes of the variant c.808G>A” were added to the Table 2 footnote list. On page 2117, Table 4 table body (under column ACTA2 Variant) “p.[Ala206Gly,Glu207_Ile269del]” was changed to “p.[Gly270Arg], p.[Ala206_Ile269del]” and “p.[Ala206Gly,Glu207_Ile269del]” was changed to “p.[Gly270Arg], p.[Ala206_Ile269del]” (rows 10 and 13). On page 2119 (right-hand column, second paragraph), the sentence “The other 2 variants in our study associated with iris flocculi were novel, namely p.[Ala206Gly,Glu207_Ile269del] and p.(Thr162Asn).” was changed to “The other 2 variants in our study associated with iris flocculi were novel, namely p.[Gly270Arg], p.[Ala206_Ile269del] and p.(Thr162Asn).” The article has been corrected online and can be accessed at https://doi.org/10.1016/j.gim.2022.07.009.
Original language | English |
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Article number | 101024 |
Number of pages | 1 |
Journal | Genetics in Medicine |
Volume | 26 |
Issue number | 2 |
Early online date | 11 Dec 2023 |
DOIs | |
Publication status | Published - Feb 2024 |
Research output: Contribution to journal › Article › Academic › peer-review