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Hannah M Mitchison

researcher

Hannah M Mitchison

British cell biologist

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About Hannah M Mitchison

British cell biologist

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Occupation: researcher
Website: http://iris.ucl.ac.uk/iris/browse/profile?upi=HMMIT79

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Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities Primary ciliary dyskinesia: current state of the art.Diagnosis and management of primary ciliary dyskinesia Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.University College London