First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
Hum Mutat
.
2001 Jun;17(6):524.
doi: 10.1002/humu.1143.
Authors
B Hoffmann
1
,
H Schmidt-Traub
,
A Perrot
,
K J Osterziel
,
R Gessner
Affiliation
1
Institut für Laboratoriumsmedizin und Pathobiochemie, Charité, Campus Virchow-Klinikum.
PMID:
11385718
DOI:
10.1002/humu.1143
No abstract available
Publication types
Case Reports
MeSH terms
Cardiomyopathy, Hypertrophic / genetics*
Cardiomyopathy, Hypertrophic / pathology
DNA / chemistry
DNA / genetics
DNA Mutational Analysis
Humans
Male
Middle Aged
Mutation, Missense
Troponin C / genetics*
Substances
Troponin C
DNA