A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date

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Fibrodysplasia Ossificans Progressiva (FOP) is a rare, autosomal dominant condition, classically characterised by heterotopic ossification beginning in childhood and congenital great toe malformations; occurring in response to a c.617 G>A ACVR1 mutation in the functionally important glycine/s...

书目详细资料
Main Authors:	Gregson, C, Hollingworth, P, Williams, M, Petrie, K, Bullock, A, Brown, M, Tobias, J, Triffitt, J
格式:	Journal article
语言:	English
出版:	2011

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