A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

Nature Genetics

Volumn 38, Issue 5, 2006, Pages 525-527

  Shore, Eileen M ^a   Xu, Meiqi ^a   Feldman, George J ^a   Fenstermacher, David A ^a,b   Brown, Matthew A ^c   Kaplan, Frederick S ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c PRINCESS ALEXANDRA HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN; PROCOLLAGEN C PROTEINASE;

ARTHRODESIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE MALFORMATION; DNA SEQUENCE; GENE MAPPING; GENE MUTATION; GENOME ANALYSIS; GENOTYPE; HUMAN; LINKAGE ANALYSIS; OSSIFYING MYOSITIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STABILITY; RARE DISEASE; SEQUENCE ANALYSIS;

ACTIVIN RECEPTORS, TYPE I; AMINO ACID SEQUENCE; ANIMALS; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYOSITIS OSSIFICANS; PEDIGREE; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 33646348736     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1783     Document Type: Article

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