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Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

bioRxiv

Sep 6, 2017

Stefan GräfNicholas W. Morrell

Abstract

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), underlie most heritable forms of PAH. Since the missi...read more

Mentioned in this Paper

Recombinant Transforming Growth Factor
Biochemical Pathway
Pulmonary Arterial Hypertension
Transforming Growth Factor beta
Bone morphogenetic protein receptor type II
Genes
GDF2
ATP13A3 protein, human
Bone Morphogenetic Proteins
Process of Secretion
22
9
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Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

bioRxiv

Sep 6, 2017

Stefan GräfNicholas W. Morrell

PMID: 990185272

DOI: 10.1101/185272

Abstract

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), underlie most heritable forms of PAH. Since the missi...read more

Mentioned in this Paper

Recombinant Transforming Growth Factor
Biochemical Pathway
Pulmonary Arterial Hypertension
Transforming Growth Factor beta
Bone morphogenetic protein receptor type II
Genes
GDF2
ATP13A3 protein, human
Bone Morphogenetic Proteins
Process of Secretion
22
9

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Paper Details
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