Novel Mutations in ACVR1 Result in Atypical Features in Two Fibrodysplasia Ossificans Progressiva Patients

Kirsten A. Petrie; Wen Hwa Lee; Alex N. Bullock; Jenny J. Pointon; Roger Smith; R. Graham G. Russell; Matthew A. Brown; B. Paul Wordsworth; James T. Triffitt

doi:10.1371/journal.pone.0005005

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Open Access

Peer-reviewed

Research Article

Novel Mutations in ACVR1 Result in Atypical Features in Two Fibrodysplasia Ossificans Progressiva Patients

Kirsten A. Petrie,

Affiliation Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Department of Orthopaedic Surgery, University of Oxford, Oxford, United Kingdom
⨯
Wen Hwa Lee,

Affiliation Structural Genomics Consortium, Nuffield Department of Clinical Medicine, ORCRB, University of Oxford, Oxford, United Kingdom
⨯
Alex N. Bullock,

Affiliation Structural Genomics Consortium, Nuffield Department of Clinical Medicine, ORCRB, University of Oxford, Oxford, United Kingdom
⨯
Jenny J. Pointon,

Affiliation Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Department of Orthopaedic Surgery, University of Oxford, Oxford, United Kingdom
⨯
Roger Smith,

Affiliation Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Department of Orthopaedic Surgery, University of Oxford, Oxford, United Kingdom
⨯
R. Graham G. Russell,

Affiliation Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Department of Orthopaedic Surgery, University of Oxford, Oxford, United Kingdom
⨯
Matthew A. Brown,

Affiliation The University of Queensland, Diamantina Institute for Cancer Immunology and Metabolic Medicine, Princess Alexandra Hospital, Woolloongabba, Queensland, Australia
⨯
B. Paul Wordsworth,

Affiliation Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Department of Orthopaedic Surgery, University of Oxford, Oxford, United Kingdom
⨯
James T. Triffitt

* E-mail: jim.triffitt@gmail.com

Affiliation Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Department of Orthopaedic Surgery, University of Oxford, Oxford, United Kingdom
⨯

Novel Mutations in ACVR1 Result in Atypical Features in Two Fibrodysplasia Ossificans Progressiva Patients

Kirsten A. Petrie,
Wen Hwa Lee,
Alex N. Bullock,
Jenny J. Pointon,
Roger Smith,
R. Graham G. Russell,
Matthew A. Brown,
B. Paul Wordsworth,
James T. Triffitt

x

Published: March 30, 2009
https://doi.org/10.1371/journal.pone.0005005

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Point mutation
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Insertion mutation
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