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The role of CAV3 in long-QT syndrome : clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote. / Hedley, Paula L; Kanters, Jørgen K.; Dembic, Maja; Jespersen, Thomas; Skibsbye, Lasse; Aidt, Frederik H; Eschen, Ole; Graff, Claus; Behr, Elijah R; Schlamowitz, Sarah; Corfield, Valerie; McKenna, William J; Christiansen, Michael.
I:
Circulation: Cardiovascular Genetics, Bind 6, Nr. 5, 10.2013, s. 452-61.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Hedley, PL
, Kanters, JK, Dembic, M
, Jespersen, T, Skibsbye, L, Aidt, FH, Eschen, O, Graff, C, Behr, ER, Schlamowitz, S, Corfield, V, McKenna, WJ & Christiansen, M 2013, '
The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote',
Circulation: Cardiovascular Genetics, bind 6, nr. 5, s. 452-61.
https://doi.org/10.1161/CIRCGENETICS.113.000137APA
Hedley, P. L.
, Kanters, J. K., Dembic, M.
, Jespersen, T., Skibsbye, L., Aidt, F. H., Eschen, O., Graff, C., Behr, E. R., Schlamowitz, S., Corfield, V., McKenna, W. J., & Christiansen, M. (2013).
The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.
Circulation: Cardiovascular Genetics,
6(5), 452-61.
https://doi.org/10.1161/CIRCGENETICS.113.000137Vancouver
Hedley PL
, Kanters JK, Dembic M
, Jespersen T, Skibsbye L, Aidt FH o.a.
The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.
Circulation: Cardiovascular Genetics. 2013 okt.;6(5):452-61.
https://doi.org/10.1161/CIRCGENETICS.113.000137Author
Hedley, Paula L ; Kanters, Jørgen K. ; Dembic, Maja ; Jespersen, Thomas ; Skibsbye, Lasse ; Aidt, Frederik H ; Eschen, Ole ; Graff, Claus ; Behr, Elijah R ; Schlamowitz, Sarah ; Corfield, Valerie ; McKenna, William J ; Christiansen, Michael. / The role of CAV3 in long-QT syndrome : clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote. I: Circulation: Cardiovascular Genetics. 2013 ; Bind 6, Nr. 5. s. 452-61.
Bibtex
@article{bc60d0f70ec24713b0e6bdacdbd6f3dd,
title = "The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote",
abstract = "Mutations in CAV3, coding for caveolin-3, the major constituent scaffolding protein of cardiac caveolae, have been associated with skeletal muscle disease, cardiomyopathy, and most recently long-QT syndrome (LQTS) and sudden infant death syndrome. We examined the occurrence of CAV3 mutations in a large cohort of patients with LQTS.",
author = "Hedley, {Paula L} and Kanters, {J{\o}rgen K.} and Maja Dembic and Thomas Jespersen and Lasse Skibsbye and Aidt, {Frederik H} and Ole Eschen and Claus Graff and Behr, {Elijah R} and Sarah Schlamowitz and Valerie Corfield and McKenna, {William J} and Michael Christiansen",
year = "2013",
month = oct,
doi = "10.1161/CIRCGENETICS.113.000137",
language = "English",
volume = "6",
pages = "452--61",
journal = "Circulation: Cardiovascular Genetics",
issn = "1942-325X",
publisher = "Lippincott Williams & Wilkins",
number = "5",
}
RIS
TY - JOUR
T1 - The role of CAV3 in long-QT syndrome
T2 - clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote
AU - Hedley, Paula L
AU - Kanters, Jørgen K.
AU - Dembic, Maja
AU - Jespersen, Thomas
AU - Skibsbye, Lasse
AU - Aidt, Frederik H
AU - Eschen, Ole
AU - Graff, Claus
AU - Behr, Elijah R
AU - Schlamowitz, Sarah
AU - Corfield, Valerie
AU - McKenna, William J
AU - Christiansen, Michael
PY - 2013/10
Y1 - 2013/10
N2 - Mutations in CAV3, coding for caveolin-3, the major constituent scaffolding protein of cardiac caveolae, have been associated with skeletal muscle disease, cardiomyopathy, and most recently long-QT syndrome (LQTS) and sudden infant death syndrome. We examined the occurrence of CAV3 mutations in a large cohort of patients with LQTS.
AB - Mutations in CAV3, coding for caveolin-3, the major constituent scaffolding protein of cardiac caveolae, have been associated with skeletal muscle disease, cardiomyopathy, and most recently long-QT syndrome (LQTS) and sudden infant death syndrome. We examined the occurrence of CAV3 mutations in a large cohort of patients with LQTS.
U2 - 10.1161/CIRCGENETICS.113.000137
DO - 10.1161/CIRCGENETICS.113.000137
M3 - Journal article
C2 - 24021552
VL - 6
SP - 452
EP - 461
JO - Circulation: Cardiovascular Genetics
JF - Circulation: Cardiovascular Genetics
SN - 1942-325X
IS - 5
ER -
