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

Bone

Volumn 48, Issue 3, 2011, Pages 654-658

  Gregson, Celia L ^a   Hollingworth, Peter ^a   Williams, Martin ^b   Petrie, Kirsten A ^c   Bullock, Alex N ^c   Brown, Matthew A ^d   Tobias, Jon H ^a   Triffitt, James T ^c  

^a UNIVERSITY OF BRISTOL   (United Kingdom)

^b SOUTHMEAD HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

ACVR1; Fibrodysplasia ossificans progressiva; FOP; Heterotopic ossification; Mutation

Indexed keywords

ACTIVIN RECEPTOR 1; ANALGESIC AGENT; FK 506 BINDING PROTEIN; FK506 BINDING PROTEIN 12 KILODALTON; GLYCINE; LEUCINE; PREDNISOLONE; PROLINE; SERINE; UNCLASSIFIED DRUG;

ABDOMINAL PAIN; ACVR1 GENE; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CAMPTODACTYLY; CASE REPORT; CERVICAL SPINE; CERVICAL SPONDYLOSIS; CRYSTAL STRUCTURE; EXON; FEMALE; FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FIBROUS DYSPLASIA; FLANK PAIN; GENE; GENE MUTATION; HETEROTOPIC OSSIFICATION; HETEROZYGOSITY; HUMAN; HYDROPHOBICITY; HYDROTHERAPY; INFLAMMATION; MASTICATORY MUSCLE; ONSET AGE; PHENOTYPE; PHYSIOTHERAPY; PROTEIN DOMAIN; SHOULDER PAIN; TRACHEOSTOMY; TRISMUS;

ACTIVIN RECEPTORS, TYPE I; ADULT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MYOSITIS OSSIFICANS; OSSIFICATION, HETEROTOPIC; PROTEIN STRUCTURE, TERTIARY; YOUNG ADULT;

EID: 79751537956     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2010.10.164     Document Type: Article

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