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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Bibliografiske detaljer
Main Authors: 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: Artigo
Sprog:Inglês
Udgivet: American Thoracic Society 2006
Fag:
H. Pulmonary Vascular Disease
Online adgang: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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