‘There and Back Again’—Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension

Although the invention of right heart catheterisation in the 1950s enabled accurate clinical diagnosis of pulmonary arterial hypertension (PAH), it was not until 2000 when the landmark discovery of the causative role of bone morphogenetic protein receptor type II (BMPR2) mutations shed new light on...

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Bibliographic Details
Published in:Genes (Basel)
Main Authors: Swietlik, Emilia M., Prapa, Matina, Martin, Jennifer M., Pandya, Divya, Auckland, Kathryn, Morrell, Nicholas W., Gräf, Stefan
Format: Artigo
Language:Inglês
Published: MDPI 2020
Subjects:
Review
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7760524/
https://ncbi.nlm.nih.gov/pubmed/33256119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11121408
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