Identification of a low frequency missense mutation in MUC6 contributing to pulmonary artery hypertension by whole-exome sequencing

Pulmonary arterial hypertension (PAH) represents a progressive disease characterized by abnormally high blood pressure in the pulmonary artery. Although mutations in the bone morphogenetic receptor 2 (BMPR2) are found in 80% of heritable, their low penetrance suggests that other unidentified genetic...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Pulm Circ
Päätekijät: Zou, Lihui, Li, Wenqing, Han, Jingli, Yang, Yuanhua, Jin, Junhua, Xiao, Fei, Xu, Xiaomao, Zhai, Zhenguo
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: SAGE Publications 2018
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6104216/
https://ncbi.nlm.nih.gov/pubmed/30047301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2045894018794374
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