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A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects
Authors
D.Q.C.M. (Daniela) Barge-Schaapveld
M. (Marianne) Bootsma
+16 more
L.G. (Ludolf) Boven
M.H. (Martijn) Breuning
A. (Arend) Bökenkamp
J.C. (Johanna) Herkert
Y.L. (Y. L.) Hiemstra
J.D.H. (Jan) Jongbloed
R.H. Lekanne Deprez
A.M. (Anneke) van Mil
C.A. (Claudia) Ruivenkamp
M.A. (Marjon) van Slegtenhorst
K.Y. (Karin) van Spaendonck-Zwarts
S.W. (Sanne W.) Ten Broeke
I.H.M. (I. H.M.) van der Linde
R.F. (Rolf) Veldkamp
J. (Jaap) van Waning
P.A. (Paul) van der Zwaag
Publication date
1 December 2017
Publisher
'Springer Science and Business Media LLC'
Doi
Abstract
Background Mutations in the myosin heavy chain 7 (MYH7) gene commonly cause cardiomyopathy but are less frequently associated with congenital heart defects. Methods In th
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Last time updated on 12/04/2018