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

‘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 (<i>BMPR2</i>) mutations...

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Bibliographic Details
Main Authors: Emilia M. Swietlik, Matina Prapa, Jennifer M. Martin, Divya Pandya, Kathryn Auckland, Nicholas W. Morrell, Stefan Gräf
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:Genes
Subjects:
forward phenotyping
forward genetics
reverse genetics
reverse phenotyping
pulmonary arterial hypertension
intermediate phenotypes
Online Access:https://www.mdpi.com/2073-4425/11/12/1408

Internet

https://www.mdpi.com/2073-4425/11/12/1408

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