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Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension

BACKGROUND: Copy-number variations (CNVs) are structural variations in the genome involving 1 kb to 3 mb of DNA. CNV has been reported within intron 1 of the BMPR2 gene. We propose that CNV could affect phenotype in familial and/or sporadic pulmonary arterial hypertension (PAH) by altering gene expr...

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Detalles Bibliográficos
Autores principales: Johnson, Jennifer A, Vnencak-Jones, Cindy L, Cogan, Joy D, Loyd, James E, West, James
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706815/
https://www.ncbi.nlm.nih.gov/pubmed/19531247
http://dx.doi.org/10.1186/1471-2350-10-58