A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension-Reference-Cited by-同舟云学术

A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension

Published:2017-04-07 Issue:1 Volume:17 Page:
ISSN:1471-2466
Container-title:BMC Pulmonary Medicine
language:en
Short-container-title:BMC Pulm Med

Author:

Higasa Koichiro,Ogawa Aiko,Terao Chikashi,Shimizu Masakazu,Kosugi Shinji,Yamada Ryo,Date Hiroshi,Matsubara Hiromi,Matsuda Fumihiko

Funder

Practical Research Project for Rare/Intractable Diseases from the Ministry of Health, Labour and Welfare of Japan and Japan Agency for Medical Research and Development, AMED

Publisher

Springer Science and Business Media LLC

Subject

Pulmonary and Respiratory Medicine

Link

http://link.springer.com/content/pdf/10.1186/s12890-017-0400-z.pdf

Reference33 articles.

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2. Girerd B, Montani D, Jais X, Eyries M, Yaici A, Sztrymf B, et al. Genetic counselling in a national referral centre for pulmonary hypertension. Eur Respir J. 2016;47:541–52.

3. Ma L, Chung WK. The genetic basis of pulmonary arterial hypertension. Hum Genet. 2014;133:471–9.

4. Machado RD, Aldred MA, James V, Harrison RE, Patel B, Schwalbe EC, et al. Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Hum Mutat. 2006;27:121–32.

5. Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, et al. Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects. Hum Mutat. 2015;36:1113–27.

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