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Gene expression in BMPR2 mutation carriers with and without evidence of Pulmonary Arterial Hypertension suggests pathways relevant to disease penetrance

BACKGROUND: While BMPR2 mutation strongly predisposes to pulmonary arterial hypertension (PAH), only 20% of mutation carriers develop clinical disease. This finding suggests that modifier genes contribute to FPAH clinical expression. Since modifiers are likely to be common alleles, this problem is n...

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Detalles Bibliográficos
Autores principales: West, James, Cogan, Joy, Geraci, Mark, Robinson, Linda, Newman, John, Phillips, John A, Lane, Kirk, Meyrick, Barbara, Loyd, Jim
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2561034/
https://www.ncbi.nlm.nih.gov/pubmed/18823550
http://dx.doi.org/10.1186/1755-8794-1-45