Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization, and a New Multiplex Ligation-Dependent Probe Amplification Probe Set in Patients with Multiple Osteochondromas

Multiple osteochondromas (MO) is an autosomal-dominant skeletal disorder characterized by the formation of multiple cartilage-capped protuberances. MO is genetically heterogeneous and is associated with mutations in the EXT1 and EXT2 genes. In this study we describe extensive mutation screening in a...

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Detalhes bibliográficos
Main Authors: Jennes, Ivy, Entius, Mark M., Van Hul, Els, Parra, Alessandro, Sangiorgi, Luca, Wuyts, Wim
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2008
Assuntos:
Regular Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2175547/
https://ncbi.nlm.nih.gov/pubmed/18165274
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2008.070086
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