Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
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 fram... Mehr ...
Verfasser: |
van den Bersselaar, Lisa M
Verhagen, Judith M A
Bekkers, Jos A
Kempers, Marlies
Houweling, Arjan C
Baars, Marieke
Overwater, Eline
Hilhorst-Hofstee, Yvonne
Barge-Schaapveld, Daniela Q C M
Rompen, Eline
Krapels, Ingrid P C
Dulfer, Eelco
Wessels, Marja W
Loeys, Bart L
Verhagen, Hence J M
Maugeri, Alessandra
Roos-Hesselink, Jolien W
Brüggenwirth, Hennie T
van de Laar, Ingrid M B H |
Dokumenttyp: |
Artikel |
Erscheinungsdatum: |
2024 |
Reihe/Periodikum: |
van den Bersselaar , L M , Verhagen , J M A , Bekkers , J A , Kempers , M , Houweling , A C , Baars , M , Overwater , E , Hilhorst-Hofstee , Y , Barge-Schaapveld , D Q C M , Rompen , E , Krapels , I P C , Dulfer , E , Wessels , M W , Loeys , B L , Verhagen , H J M , Maugeri , A , Roos-Hesselink , J W , Brüggenwirth , H T & van de Laar , I M B H 2024 , ' Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort ' , Genetics in Medicine , vol. 26 , no. 2 , 101024 . https://doi.org/10.1016/j.gim.2023.101024 |
Sprache: |
Englisch |
Permalink: |
https://search.fid-benelux.de/Record/base-27439726 |
Datenquelle: |
BASE;
Originalkatalog |
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Link(s) :
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https://cris.maastrichtuniversity.nl/en/publications/259a6d64-b116-455f-863c-aab7b892658b |