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Fibrodysplasia ossificans progressiva / ACVR1 / BMPR2 / Signal transduction / Microsatellite / Mutation / Activin and inhibin / Biology / Genetics / International FOP Association


B R I E F C O M M U N I C AT I O N S A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia
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Document Date: 2008-04-22 09:31:57

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City

New York / Paris / Woolloongabba / Oxford / Paulo / Philadelphia / Garmisch-Partenkirchen / Sao Paulo / Seoul / Melbourne / Baarn / Cali / /

Company

Ligand / I O N S A / /

Country

Germany / Netherlands / United States / Brazil / Australia / Korea / United Kingdom / Scotland / /

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Facility

University of Pennsylvania Biomedical Informatics Facility / Informatics Facility / Medicine Genomics Core Facility / University of Oxford FOP Research Fund / Medicine DNA Sequencing Facility / Princess Alexandra Hospital / Royal Children’s Hospital / University of Oxford / Laboratory Medicine / University of Utah School / Seoul National University Children’s Hospital / University of Pennsylvania School / University of Michigan / European Neuromuscular Center / University of Pennsylvania Microarray Core Facility / University of California Santa Cruz Genome Browser / /

IndustryTerm

ONLINE PUBLICATION NATURE GENETICS / shorter side chain / side chain / ONLINE PUBLICATION / /

MedicalCondition

extra-articular ankylosis / rare autosomal dominant disorder / juvenile polyposis syndrome / fibrodysplasia ossificans progressiva / catastrophic disorder / highly ambiguous disease / Cancer / disease / primary pulmonary hypertension / Related Disorders / Heritable Disorders / severe and disabling disorder / /

MedicalTreatment

Orthopaedic Surgery / /

Organization

University of Pennsylvania School of Medicine DNA Sequencing Facility / University of Pennsylvania School of Medicine / Royal Children’s Hospital / National Institute of Health / University of Pennsylvania Biomedical Informatics Facility / Cancer Center / University of Utah School of Medicine Genomics Core Facility / University of Michigan / Institut de Myologie / Oxford FOP Research Fund / University of Oxford / International Fibrodysplasia Ossificans Progressiva Association / University of Glasgow School of Medicine / Glasgow / Seoul National University Children’s Hospital / European Neuromuscular Center / University of Pennsylvania Microarray Core Facility / University of California Santa Cruz Genome Browser / FOP International Research Consortium / Sarah Cameron Fund / Princess Alexandra Hospital / /

Person

Roger Smith / Pierre-Yves / Tae-Joon Cho / Rolf Morhart / John Rogers / Martine LeMerrer / Jon Andoni Urtizberea / ACA GTG GCT CRC CAG / J. Michael Connor / Enfants Malades / David Glaser / ACA GTG GCT CGC CAG / Michael Zasloff / Patricia Delai / James Triffitt / Rose Nassau / /

Position

Bone Miner / J. Bone Miner / representative / /

Product

D2S1238 D2S335 rs2016702 D2S2157 D2S2330 / glycine / /

ProvinceOrState

A.B. / Queensland / New York / Michigan / Pennsylvania / /

PublishedMedium

Cancer Research / /

Technology

Genomics / BMP / tomography / genotyping / human genome / DNA Chip / DNA Sequencing / http / SNP / regenerative medicine / /

URL

http /

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