Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
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Author / Creator
Gräf, Stefan , Haimel, Matthias , Bleda, Marta , Hadinnapola, Charaka , Southgate, Laura , Li, Wei , Hodgson, Joshua , Liu, Bin , Salmon, Richard M. , Southwood, Mark , Machado, Rajiv D. , Martin, Jennifer M. , Treacy, Carmen M. , Yates, Katherine , Daugherty, Louise C. , Shamardina, Olga , Whitehorn, Deborah , Holden, Simon , Aldred, Micheala , Bogaard, Harm J. , Church, Colin , Coghlan, Gerry , Condliffe, Robin , Corris, Paul A. , Danesino, Cesare , Eyries, Mélanie , Gall, Henning , Ghio, Stefano , Ghofrani, Hossein-Ardeschir , Gibbs, J. Simon R. , Girerd, Barbara , Houweling, Arjan C. , Howard, Luke , Humbert, Marc , Kiely, David G. , Kovacs, Gabor , MacKenzie Ross, Robert V. , Moledina, Shahin , Montani, David , Newnham, Michael , Olschewski, Andrea , Olschewski, Horst , Peacock, Andrew J. , Pepke-Zaba, Joanna , Prokopenko, Inga , Rhodes, Christopher J. , Scelsi, Laura , Seeger, Werner , Soubrier, Florent , Stein, Dan F. , Suntharalingam, Jay , Swietlik, Emilia M. , Toshner, Mark R. , van Heel, David A. , Vonk Noordegraaf, Anton , Waisfisz, Quinten , Wharton, John , Wort, Stephen J. , Ouwehand, Willem H. , Soranzo, Nicole , Lawrie, Allan , Upton, Paul D. , Wilkins, Martin R. , Trembath, Richard C. and Morrell, Nicholas W.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-β pathway, particularly the bone morphogenetic protein type 2 receptor (
BMPR2
), underlies most heritable forms of PAH. To identify the missing heritability we perform whole-genome sequenci...
Alternative Titles
Full title
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
Authors, Artists and Contributors
Author / Creator
Haimel, Matthias
Bleda, Marta
Hadinnapola, Charaka
Southgate, Laura
Li, Wei
Hodgson, Joshua
Liu, Bin
Salmon, Richard M.
Southwood, Mark
Machado, Rajiv D.
Martin, Jennifer M.
Treacy, Carmen M.
Yates, Katherine
Daugherty, Louise C.
Shamardina, Olga
Whitehorn, Deborah
Holden, Simon
Aldred, Micheala
Bogaard, Harm J.
Church, Colin
Coghlan, Gerry
Condliffe, Robin
Corris, Paul A.
Danesino, Cesare
Eyries, Mélanie
Gall, Henning
Ghio, Stefano
Ghofrani, Hossein-Ardeschir
Gibbs, J. Simon R.
Girerd, Barbara
Houweling, Arjan C.
Howard, Luke
Humbert, Marc
Kiely, David G.
Kovacs, Gabor
MacKenzie Ross, Robert V.
Moledina, Shahin
Montani, David
Newnham, Michael
Olschewski, Andrea
Olschewski, Horst
Peacock, Andrew J.
Pepke-Zaba, Joanna
Prokopenko, Inga
Rhodes, Christopher J.
Scelsi, Laura
Seeger, Werner
Soubrier, Florent
Stein, Dan F.
Suntharalingam, Jay
Swietlik, Emilia M.
Toshner, Mark R.
van Heel, David A.
Vonk Noordegraaf, Anton
Waisfisz, Quinten
Wharton, John
Wort, Stephen J.
Ouwehand, Willem H.
Soranzo, Nicole
Lawrie, Allan
Upton, Paul D.
Wilkins, Martin R.
Trembath, Richard C.
Morrell, Nicholas W.
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_cb3171b4e79940aa9ab812b5a9ce621a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_cb3171b4e79940aa9ab812b5a9ce621a
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-018-03672-4
