A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A; R206H) in the glycine-...

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Detalhes bibliográficos
Main Authors: Shore, E, Xu, M, Feldman, G, Fenstermacher, D, Cho, T, Choi, I, Connor, J, Delai, P, Glaser, D, LeMerrer, M, Morhart, R, Rogers, J, Smith, R, Triffitt, J, Urtizberea, J, Zasloff, M, Brown, M, Kaplan, F
Formato: Journal article
Idioma:English
Publicado em: 2006

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