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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Bibliografski detalji
Glavni autori: 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
Jezik:Inglês
Izdano: American Thoracic Society 2006
Teme:
H. Pulmonary Vascular Disease
Online pristup: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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