ACVR1 (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: second report.

Nakahara, Y; Katagiri, T; Ogata, N; Haga, N

Nakahara, Y; Katagiri, T; Ogata, N; Haga, N.

Affiliation

Nakahara Y; Department of Rehabilitation Medicine, The University of Tokyo Hospital, Tokyo, Japan.

Am J Med Genet A ; 164A(1): 220-4, 2014 Jan.

Article in En | MEDLINE | ID: mdl-24259422

Subject(s)

Activin Receptors, Type I/genetics; Mutation; Myositis Ossificans/diagnosis; Myositis Ossificans/genetics; Bone and Bones/diagnostic imaging; Bone and Bones/pathology; DNA Mutational Analysis; Exons; Heterozygote; Humans; Magnetic Resonance Imaging; Male; Phenotype; Radiography; Shoulder/pathology; Young Adult

Key words

FOP variant; activin A type 1 receptor gene (ACVR1); bone morphogenetic protein (BMP); fibrodysplasia ossificans progressiva (FOP); rare mutation ACVR1 (587T>C); slower and mild clinical course

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Activin Receptors, Type I / Mutation / Myositis Ossificans Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: Japan Country of publication: United States

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