Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients

PLoS ONE

Volumn 4, Issue 3, 2009, Pages

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

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; GLYCINE; MEMBRANE PROTEIN; PROTEIN ACVR1; THREONINE; UNCLASSIFIED DRUG; ACTIVIN RECEPTOR 1; ACVR1 PROTEIN, HUMAN; PROTEIN KINASE;

ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; BONE SWELLING; CASE REPORT; CONTROLLED STUDY; DISEASE EXACERBATION; DISEASE SEVERITY; FEMALE; GENE ACTIVATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HALLUX; HUMAN; LUMBAR SPINE; MILD COGNITIVE IMPAIRMENT; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; OSSIFICATION; OSSIFYING MYOSITIS; POINT MUTATION; PROTEIN DOMAIN; SEQUENCE HOMOLOGY; ENZYME ACTIVATION; GENETICS; MIDDLE AGED; PHENOTYPE;

ACTIVIN RECEPTORS, TYPE I; ADOLESCENT; ENZYME ACTIVATION; FEMALE; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; MYOSITIS OSSIFICANS; PHENOTYPE; POINT MUTATION; PROTEIN KINASES;

EID: 63749106137     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0005005     Document Type: Article

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