Functional characterization of desmin mutant p.P419S
Eur J Hum Genet
.
2013 Jun;21(6):589-90.
doi: 10.1038/ejhg.2012.212.
Epub 2012 Oct 3.
Authors
Andreas Brodehl
,
Mareike Dieding
,
Hamdin Cakar
,
Bärbel Klauke
,
Volker Walhorn
,
Jan Gummert
,
Dario Anselmetti
,
Hendrik Milting
PMID:
23032110
PMCID:
PMC3658197
DOI:
10.1038/ejhg.2012.212
No abstract available
Publication types
Letter
Comment
MeSH terms
Arrhythmogenic Right Ventricular Dysplasia / genetics*
Desmin / genetics*
Female
Humans
Intermediate Filaments / genetics*
Male
Muscular Dystrophies / genetics*
Point Mutation*
White People / genetics*
Substances
Desmin