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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Bibliografiske detaljer
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
Format:	Journal article
Sprog:	English
Udgivet:	2006

Lignende værker

Erratum: A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva (Nature Genetics (2006) 38, (525-527))
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Udgivet: (2007)

Response to "Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)" by Lucotte et al.
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Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.
af: Petrie, K, et al.
Udgivet: (2009)

Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.
af: Petrie, K, et al.
Udgivet: (2009)

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Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.
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Udgivet: (2007)

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Udgivet: (2007)

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Udgivet: (2016-06-01)

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Correction: High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva
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Udgivet: (2016-09-01)

Fibrodysplasia Ossificans Progressiva: Case Report
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The Fibrodysplasia Ossificans Progressiva and Bone Scintigraphy
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Immunologic Aspects in Fibrodysplasia Ossificans Progressiva
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Udgivet: (2024-03-01)

Recent Topics in Fibrodysplasia Ossificans Progressiva
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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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Udgivet: (2011)

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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Udgivet: (2011)

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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Udgivet: (2011)

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Udgivet: (2012-04-01)

Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature
af: Mohammad Al-Haggar, et al.
Udgivet: (2013-01-01)

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Udgivet: (2021)

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Udgivet: (2024-12-01)

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Investigation of kinase activation in fibrodysplasia ossificans progressiva
af: Sanvitale, CE
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