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An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas

✍ Scribed by W Wuyts; R Radersma; K Storm; L Vits


Book ID
110888105
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
96 KB
Volume
68
Category
Article
ISSN
0009-9163

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Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of exostoses, which are cartilage-capped bony protuberances mainly located on long bones. Two genes, EXT1 and EXT2, and at least one other unidentified gene, are known to be involved in the formation

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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

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## Background: Osteochondroma most frequently arises sporadically and as a solitary lesion, but also may arise as multiple lesions characterizing the autosomal dominant disorder hereditary multiple exostoses (hme) and the contiguous gene syndromes langer-giedion and defect-11 syndromes. hme is gene