Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease

Research output: Contribution to journal › Journal article › Research › peer-review

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Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease. / Hornstrup, Louise S; Tybjærg-Hansen, Anne; Haase, Christiane L; Nordestgaard, Børge G; Sillesen, Henrik; Grande, Peer; Frikke-Schmidt, Ruth.

In: Circulation: Cardiovascular Genetics, Vol. 4, No. 5, 2011, p. 534-41.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Hornstrup, LS, Tybjærg-Hansen, A, Haase, CL, Nordestgaard, BG, Sillesen, H, Grande, P & Frikke-Schmidt, R 2011, 'Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease', Circulation: Cardiovascular Genetics, vol. 4, no. 5, pp. 534-41. https://doi.org/10.1161/CIRCGENETICS.110.958801

APA

Hornstrup, L. S., Tybjærg-Hansen, A., Haase, C. L., Nordestgaard, B. G., Sillesen, H., Grande, P., & Frikke-Schmidt, R. (2011). Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease. Circulation: Cardiovascular Genetics, 4(5), 534-41. https://doi.org/10.1161/CIRCGENETICS.110.958801

Vancouver

Hornstrup LS, Tybjærg-Hansen A, Haase CL, Nordestgaard BG, Sillesen H, Grande P et al. Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease. Circulation: Cardiovascular Genetics. 2011;4(5):534-41. https://doi.org/10.1161/CIRCGENETICS.110.958801

Author

Hornstrup, Louise S ; Tybjærg-Hansen, Anne ; Haase, Christiane L ; Nordestgaard, Børge G ; Sillesen, Henrik ; Grande, Peer ; Frikke-Schmidt, Ruth. / Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease. In: Circulation: Cardiovascular Genetics. 2011 ; Vol. 4, No. 5. pp. 534-41.

Bibtex

@article{bb390862f8d94ecb8a496e3b4e380a22,
title = "Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease",
abstract = "Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease caused by loss-of-function mutations in ABCC6 and characterized by elastic calcification leading to dermal, ocular, and ischemic vascular disease. We tested the hypothesis that heterozygosity for R1141X, the most frequent PXE-causing mutation in Caucasians, associated with risk of ischemic vascular disease, as previous studies suggested 4- to 11-fold risk of ischemic heart disease (IHD) in heterozygotes.",
author = "Hornstrup, {Louise S} and Anne Tybj{\ae}rg-Hansen and Haase, {Christiane L} and Nordestgaard, {B{\o}rge G} and Henrik Sillesen and Peer Grande and Ruth Frikke-Schmidt",
year = "2011",
doi = "http://dx.doi.org/10.1161/CIRCGENETICS.110.958801",
language = "English",
volume = "4",
pages = "534--41",
journal = "Circulation: Cardiovascular Genetics",
issn = "1942-325X",
publisher = "Lippincott Williams & Wilkins",
number = "5",

}

RIS

TY - JOUR

T1 - Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease

AU - Hornstrup, Louise S

AU - Tybjærg-Hansen, Anne

AU - Haase, Christiane L

AU - Nordestgaard, Børge G

AU - Sillesen, Henrik

AU - Grande, Peer

AU - Frikke-Schmidt, Ruth

PY - 2011

Y1 - 2011

N2 - Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease caused by loss-of-function mutations in ABCC6 and characterized by elastic calcification leading to dermal, ocular, and ischemic vascular disease. We tested the hypothesis that heterozygosity for R1141X, the most frequent PXE-causing mutation in Caucasians, associated with risk of ischemic vascular disease, as previous studies suggested 4- to 11-fold risk of ischemic heart disease (IHD) in heterozygotes.

AB - Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease caused by loss-of-function mutations in ABCC6 and characterized by elastic calcification leading to dermal, ocular, and ischemic vascular disease. We tested the hypothesis that heterozygosity for R1141X, the most frequent PXE-causing mutation in Caucasians, associated with risk of ischemic vascular disease, as previous studies suggested 4- to 11-fold risk of ischemic heart disease (IHD) in heterozygotes.

U2 - http://dx.doi.org/10.1161/CIRCGENETICS.110.958801

DO - http://dx.doi.org/10.1161/CIRCGENETICS.110.958801

M3 - Journal article

VL - 4

SP - 534

EP - 541

JO - Circulation: Cardiovascular Genetics

JF - Circulation: Cardiovascular Genetics

SN - 1942-325X

IS - 5

ER -

ID: 40156932