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

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Standard

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 tidsskriftTidsskriftartikel

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.113.000137

APA

Hedley, P. L., Kanters, J. K., Dembic, M., Jespersen, T., Skibsbye, L., Aidt, F. H., ... 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.113.000137

Vancouver

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.113.000137

Author

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 = "10",
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 -

ID: 101010476