Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf, Stefan

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. [electronic resource] - Nature communications 04 2018 - 1416 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

2041-1723

10.1038/s41467-018-03672-4 doi


Adenosine Triphosphatases--chemistry
Adult
Aquaporin 1--chemistry
Base Sequence
Bone Morphogenetic Protein Receptors, Type II--genetics
Case-Control Studies
Familial Primary Pulmonary Hypertension--diagnosis
Female
Gene Expression Regulation
Genetic Predisposition to Disease
Growth Differentiation Factor 2
Growth Differentiation Factors--chemistry
HEK293 Cells
Humans
Male
Membrane Transport Proteins--chemistry
Models, Molecular
Mutation
Prognosis
SOXF Transcription Factors--chemistry
Signal Transduction
Transforming Growth Factor beta--genetics
Whole Genome Sequencing