α1-A680T variant in GUCY1A3 as a candidate conferring protection from pulmonary hypertension among Kyrgyz highlanders.

doi:10.1161/CIRCGENETICS.114.000763

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Article

α1-A680T variant in GUCY1A3 as a candidate conferring protection from pulmonary hypertension among Kyrgyz highlanders.

Circulation. Cardiovascular genetics - 1 Dec 2014

Wilkins Martin R, Aldashev Almaz A, Wharton John, Rhodes Christopher J, Vandrovcova Jana, Kasperaviciute Dalia, Bhosle Shriram G, Mueller Michael, Geschka Sandra, Rison Stuart, Kojonazarov Baktybek, Morrell Nicholas W, Neidhardt Inga, Surmeli Nur Basak, Surmeli Nur Basek, Aitman Tim J, Stasch Johannes-Peter, Behrends Soenke, Marletta Michael A

Abstract excerpt

BACKGROUND: Human variation in susceptibility to hypoxia-induced pulmonary hypertension is well recognized. High-altitude residents who do not develop pulmonary hypertension may host protective gene mutations. METHODS AND RESULTS: Exome sequencing was conducted on 24 unrelated Kyrgyz highlanders living 2400 to 3800 m above sea level, 12 (10 men; mean age, 54 years) with an elevated mean pulmonary artery pressure...

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PMID: 25373139
DOI: 10.1161/CIRCGENETICS.114.000763

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