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Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension

✍ Scribed by Maloney, J. P.; Stearman, R. S.; Bull, T. M.; Calabrese, D. W.; Tripp-Addison, M. L.; Wick, M. J.; Broeckel, U.; Robbins, I. M.; Wheeler, L. A.; Cogan, J. D.; Loyd, J. E.


Book ID
118153203
Publisher
The American Physiological Society
Year
2012
Tongue
English
Weight
912 KB
Volume
302
Category
Article
ISSN
1040-0605

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BMPR2 gene rearrangements account for a
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Mutations of the BMPR2 gene predispose to pulmonary arterial hypertension (PAH), a serious, progressive disease of the pulmonary vascular system. However, despite the fact that most PAH families are consistent with linkage to the BMPR2 locus, sequencing only identifies mutations in some 55% of famil