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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Investigative Pathology 2010
Soggetti:
Regular Articles
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi