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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Bibliografiska uppgifter
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Thoracic Society 2006
Ämnen:
H. Pulmonary Vascular Disease
Länkar: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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