A unique case of fihrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)

American Journal of Medical Genetics, Part A

Volumn 146, Issue 4, 2008, Pages 459-463

  Furuya, Hirokazu ^a,b   Ikezoe, Koji ^a,c   Wang, Lixiang ^d   Ohyagi, Yasumasa ^b   Motomura, Kyoko ^b   Fujii, Naoki ^a   Kira, Jun Ichi ^b   Fukumaki, Yasuyuki ^d  

^a Omuta National Hospital   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

^c KAWASAKI MEDICAL SCHOOL   (Japan)

^d KYUSHU UNIVERSITY   (Japan)

Author keywords

Activin A type I receptor gene (ACVR1); Bone morphogenetic protein (BMP); Bone morphogenetic protein receptor (BMPR); Fibrodysplasia ossificans progressiva (FOP); Rare mutation; Single nucleotide polymorphism (SNP)

Indexed keywords

ACTIVIN A; ACTIVIN RECEPTOR; BONE MORPHOGENETIC PROTEIN; BONE MORPHOGENETIC PROTEIN RECEPTOR; ACTIVIN RECEPTOR 1; ACVR1 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADULT; ALOPECIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE DEVELOPMENT; CASE REPORT; CLINICAL ASSESSMENT; ENCHONDRAL OSSIFICATION; GENE MUTATION; HALLUX; HETEROZYGOSITY; HUMAN; MALE; OSSIFYING MYOSITIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RECEPTOR GENE; SINGLE NUCLEOTIDE POLYMORPHISM; AMINO ACID SEQUENCE; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; SEQUENCE HOMOLOGY;

ACTIVIN RECEPTORS, TYPE I; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MYOSITIS OSSIFICANS; PEDIGREE; POINT MUTATION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 38849093307     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32151     Document Type: Article

References (9)

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