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Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)

✍ Scribed by Ivy Jennes; Elena Pedrini; Monia Zuntini; Marina Mordenti; Sahila Balkassmi; Carla G. Asteggiano; Brett Casey; Bert Bakker; Luca Sangiorgi; Wim Wuyts

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 194 KB
Volume: 30
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.21123

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✦ Synopsis

Communicated by A. Jamie Cuticchia

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We describe here the spectrum and distribution of mutations in the EXT1 and EXT2 genes in the largest reported British Caucasian multiple osteochondromas (MO) population. Furthermore, we report for the first time the screening of the EXT1 and EXT2 promoters, 5'UTRs, and 3'UTRs, and exclude six poten