Home > Search Results: Johari, Mridul
  Search Tips
Advanced Search
Search collections:
Sort by: Display results: Output format:
Results overview: Found 1 records in 0.02 seconds.
Articles, 1 records found
Articles 1 records found  
1.
12 p, 1.3 MB Mutation update for the ACTN2 gene / Ranta-aho, Johanna (University of Helsinki) ; Olive, Montse (Institut d'Investigació Biomèdica Sant Pau) ; Vandroux, Marie (Université de Strasbourg) ; Roticiani, Giorgia (Folkhälsan Research Center) ; Dominguez, Cristina (Instituto de Salud Carlos III) ; Johari, Mridul (University of Helsinki) ; Torella, Annalaura (University of Campania 'Luigi Vanvitelli') ; Böhm, Johann (Université de Strasbourg) ; Turon, Janina (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Nigro, Vincenzo (University of Campania 'Luigi Vanvitelli') ; Hackman, Peter (University of Helsinki) ; Laporte, Jocelyn (Université de Strasbourg) ; Udd, Bjarne (Vaasa Central Hospital) ; Savarese, Marco (University of Helsinki) ; Universitat Autònoma de Barcelona
ACTN2 encodes alpha-actinin-2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z-disk, functions as a link between the anti-parallel actin filaments. This important structural protein also binds N-terminal titins, and thus contributes to sarcomere stability. [...]
2022 - 10.1002/humu.24470
Human mutation, Vol. 43 Núm. 12 (december 2022) , p. 1745-1756  
Detailed record - Creative Commons

See also: similar author names
1 Johari, M.
Interested in being notified about new results for this query?
Set up a personal email alert or subscribe to the RSS feed.
UAB Digital Repository of Documents :: Search :: Submit :: Personalize :: Help
Powered by Invenio v1.1.6
Maintained by ddd.bib@uab.cat  :: Metadata license:
Working with