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

Osteogenesis imperfecta (OI) and Marfan syndrome (MFS) are common Mendelian disorders. Both conditions are usually diagnosed clinically, as genetic testing is expensive due to the size and number of potentially causative genes and mutations. However, genetic testing may benefit patients, at-risk fam...

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Главные авторы: McInerney-Leo, Aideen M, Marshall, Mhairi S, Gardiner, Brooke, Coucke, Paul J, Van Laer, Lut, Loeys, Bart L, Summers, Kim M, Symoens, Sofie, West, Jennifer A, West, Malcolm J, Paul Wordsworth, B, Zankl, Andreas, Leo, Paul J, Brown, Matthew A, Duncan, Emma L
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2013
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3909233/
https://ncbi.nlm.nih.gov/pubmed/24501682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/bonekey.2013.190
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