Case Report: BMPR2-Targeted MinION Sequencing as a Tool for Genetic Analysis in Patients With Pulmonary Arterial Hypertension

Background: Mutations in the bone morphogenetic protein receptor type 2 gene (BMPR2) represent a major genetic cause of pulmonary arterial hypertension (PAH). Identification of BMPR2 mutations is crucial for the genetic diagnosis of PAH. MinION nanopore sequencer is a portable third-generation techn...

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Detalles Bibliográficos
Autores principales: Takashima, Tomoya, Brisset, Sophie, Furukawa, Asuka, Taniguchi, Hirohisa, Takeyasu, Rika, Kawamura, Akio, Tamura, Yuichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8473694/
https://www.ncbi.nlm.nih.gov/pubmed/34589526
http://dx.doi.org/10.3389/fcvm.2021.711694

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