TY  -  
T1  - Mutation analysis of TGF-β signaling pathway genes among Finnish patients with primary pulmonary hypertension and hereditary hemorrhagic telangiectasia 
SN  -  /  
UR  - URN:ISBN:978-952-10-5269-9; http://hdl.handle.net/10138/20448 
T3  -  
A1  - Sankelo, Marja 
A2  -  
PB  - Helsingin yliopisto 
Y1  - 2009 
LA  - eng 
AB  - Primary pulmonary hypertension (PPH), or according to the recent classification idiopathic pulmonary hypertension (IPAH), is a rare, progressive disease of pulmonary vasculature leading to pulmonary hypertension and right heart failure. Most of the patients are sporadic but in about 6% of cases the disease is familial (FPPH). In 2000 two different groups identified the gene predisposing to PPH. This gene, Bone morphogenetic protein receptor type 2 (BMPR2), encodes a subunit of transforming growt... 
VO  -  
IS  -  
SP  -  
OP  -  
KW  - lääketieteellinen genetiikka 
N1  -   
PP  -  
ER  -