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New Mutations of EXT1 and EXT2 Genes in German Patients with Multiple Osteochondromas

✍ Scribed by Wolfram Heinritz; Ulrike Hüffmeier; Sibylle Strenge; Bianca Miterski; Christiane Zweier; Steffen Leinung; Axel Bohring; Beate Mitulla; Usha Peters; Ursula G. Froster


Book ID
111111487
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
202 KB
Volume
73
Category
Article
ISSN
0003-4800

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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