Article
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.
European journal of human genetics : EJHG - 1 Apr 2005
Vink Geraldine R, White Stefan J, Gabelic Strelicija, Hogendoorn Pancras C W, Breuning Martijn H, Bakker Egbert
Abstract excerpt
Multiple osteochondromas (MO) is an autosomal dominant condition, caused by mutations in either the EXT1 or the EXT2 gene. The DNA of a cohort of 35 patients, clinically suspected to be affected with MO, was screened for mutations by a combination of direct sequence analysis and multiplex ligation-dependent probe amplification (MLPA). In this cohort, 26 pathogenic gene alterations were found (74%). With sequence...
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