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Mutations in the EXT1 and EXT2 genes in patients with multiple osteochondromas from Spain

✍ Scribed by P. Sarrion; A. Sangorrin; R. Urreizti; R. Artuch; L. Martorell; J. Armstrong; J. Anton; F. Torner; M.A. Vilaseca; S. Balcells; D. Grinberg


Book ID
116324470
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
58 KB
Volume
48
Category
Article
ISSN
8756-3282

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Novel EXT1 and EXT2 mutations identified
✍ Elena Pedrini; Alessandro De Luca; Enza Maria Valente; Veronica Maini; Silvia Ca πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 162 KB πŸ‘ 1 views

We describe the results of an optimised DHPLC-based mutation screening of the EXT1 and EXT2 genes in Italian patients affected by multiple osteochondromas [MO; also referred to as hereditary multiple exostoses (HME) in the literature], using a multistep approach. We first analysed 36 unrelated proba