High Frequency of BMPR2 Exonic Deletions/Duplications in Familial Pulmonary Arterial Hypertension

Rationale: Previous studies have shown that approximately 55% of patients with familial pulmonary arterial hypertension (FPAH) have BMPR2 coding sequence mutations. However, direct sequencing does not detect other types of heterozygous mutations, such as exonic deletions/duplications. Objective: To...

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Autors principals: Cogan, Joy D., Pauciulo, Michael W., Batchman, Amy P., Prince, Melissa A., Robbins, Ivan M., Hedges, Lora K., Stanton, Krista C., Wheeler, Lisa A., Phillips, John A., Loyd, James E., Nichols, William C.
Format: Article
Idioma:English
Publicat: American Thoracic Society 2006
Matèries:
H. Pulmonary Vascular Disease
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2648061/
https://ncbi.nlm.nih.gov/pubmed/16728714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1164/rccm.200602-165OC
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https://ncbi.nlm.nih.gov/pmc/articles/PMC2648061/
https://ncbi.nlm.nih.gov/pubmed/16728714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1164/rccm.200602-165OC

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