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-...
Những tác giả chính: | , , , , , , , , , , , , , , , , , |
---|---|
Định dạng: | Journal article |
Ngôn ngữ: | English |
Được phát hành: |
2006
|