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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2010
Assuntos:
Regular Articles
Acesso em linha: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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