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

Fibrodysplasia Ossificans Progressiva (FOP) is a rare, heritable condition typified by progression of extensive ossification within skeletal muscle, ligament and tendon together with defects in skeletal development. The condition is easily diagnosed by the presence of shortened great toes and there...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों:	Petrie, K, Lee, W, Bullock, A, Pointon, J, Smith, R, Russell, R, Brown, M, Wordsworth, B, Triffitt, J
स्वरूप:	Journal article
भाषा:	English
प्रकाशित:	2009
विषय:	Female Humans Protein Kinases Adolescent Mutation, Missense Activin Receptors, Type I Point Mutation Myositis Ossificans Middle Aged genetics Enzyme Activation Phenotype

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

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