No Haploinsufficiency but Loss of Heterozygosity for EXT in Multiple Osteochondromas

Multiple osteochondromas (MO) is an autosomal dominant disorder caused by germline mutations in EXT1 and/or EXT2. In contrast, solitary osteochondroma (SO) is nonhereditary. Products of the EXT gene are involved in heparan sulfate (HS) biosynthesis. In this study, we investigated whether osteochondr...

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Main Authors: Reijnders, Christianne M.A., Waaijer, Cathelijn J.F., Hamilton, Andrew, Buddingh, Emilie P., Dijkstra, Sander P.D., Ham, John, Bakker, Egbert, Szuhai, Karoly, Karperien, Marcel, Hogendoorn, Pancras C.W., Stringer, Sally E., Bovée, Judith V.M.G.
格式: Artigo
語言:Inglês
出版: American Society for Investigative Pathology 2010
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2947289/
https://ncbi.nlm.nih.gov/pubmed/20813973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/ajpath.2010.100296
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