Φορτώνει......
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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
American Society for Investigative Pathology
2008
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| Θέματα: | |
| Διαθέσιμο Online: | 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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