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Austin, E.D.

Stichwort

Nonsense Mediated mRNA Decay

Abnormal Trafficking of Endogenously Expressed BMPR2 Mutant Allelic Products in Patients with Heritable Pulmonary Arterial Hypertension

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Schöpfer:

Frump, A.L., Hamid, R., de Caestecker, M., Austin, E.D., and Lowery, Jonathan W.

Beschreibung:

More than 200 heterozygous mutations in the type 2 BMP receptor gene, BMPR2, have been identified in patients with Heritable Pulmonary Arterial Hypertension (HPAH). More severe clinical outcomes occur in patients with BMPR2...

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