Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.

Authors

Sandestig A1,Green A1,Jonasson J 1,Vogt H2,Wahlström J2,Pepler A3 Ellnebo K1, Biskup S3, Stefanova M1.
  1. Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden.
  2. Department of Pediatrics, Linköping University Hospital, Linköping, Sweden.
  3. Department of CeGaT GmbH, Tübingen, Germany.