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Article

Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2005

Cogan Joy D, Vnencak-Jones Cindy L, Phillips John A, Lane Kirk B, Wheeler Lisa A, Robbins Ivan M, Garrison Gladys, Hedges Lora K, Loyd James E

Abstract excerpt

PURPOSE: Approximately 50% of patients with familial primary pulmonary hypertension (FPPH) have been reported to have mutations within the bone morphogenic protein receptor type 2 (BMPR2) gene. The vast majority of these mutations were identified by PCR amplification and sequencing of individual exons. The aim of our study was to determine if additional BMPR2 mutations not found by exon sequencing alone could...

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Share to Bone Morphogenetic Protein Receptors, Type II

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Rearrangement

Share to Hypertension, Pulmonary

Share to Protein Serine-Threonine Kinases

Share to Receptors, Cell Surface

Share to Recombination, Genetic

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Identifiers

PMID: 15775752
DOI: 10.1097/01.gim.0000156525.09595.e9

Genes

BMPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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