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K zobrazení výsledku je třeba se přihlásit.

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

Autor: McInerney-Leo AM; The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital , Brisbane, Queensland, Australia., Marshall MS; The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital , Brisbane, Queensland, Australia., Gardiner B; The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital , Brisbane, Queensland, Australia., Coucke PJ; Medical Genetics, The University Hospital Ghent , Gent, Belgium., Van Laer L; University of Antwerp, Antwerp University Hospital , Antwerp, Belgium., Loeys BL; University of Antwerp, Antwerp University Hospital , Antwerp, Belgium ; Department of Genetics, Radboud University Medical Center , Nijmegen, The Netherlands., Summers KM; The Roslin Institute and R(D)SVS, University of Edinburgh , Midlothian, UK., Symoens S; Medical Genetics, The University Hospital Ghent , Gent, Belgium., West JA; The University of Qld Northside Clinical School, Prince Charles Hospital , Chermside, Queensland, Australia., West MJ; The University of Qld Northside Clinical School, Prince Charles Hospital , Chermside, Queensland, Australia., Paul Wordsworth B; NIHR Oxford Musculoskeletal Biomedical Research Unit, Nuffield Orthopaedic Centre , Oxford, UK., Zankl A; The University of Queensland, UQ Centre for Clinical Research , Herston, Queensland, Australia ; Sydney Medical School, University of Sydney , Sydney, New South Wales, Australia ; Academic Department of Medical Genetics, The Children's Hospital at Westmead , Sydney, New South Wales, Australia., Leo PJ; The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital , Brisbane, Queensland, Australia., Brown MA; The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital , Brisbane, Queensland, Australia., Duncan EL; The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital , Brisbane, Queensland, Australia ; Department of Endocrinology, Royal Brisbane and Women's Hospital , Herston, Queensland, Australia.

Publikováno v: BoneKEy reports [Bonekey Rep] 2013 Dec 04; Vol. 2, pp. 456. Date of Electronic Publication: 2013 Dec 04 (Print Publication: 2013).