Mutation screening of EXT genes in Chinese patients with multiple osteochondromas
β Scribed by Zuming Kang; Fenglan Peng; Tianyou Ling
- Book ID
- 119241286
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 234 KB
- Volume
- 506
- Category
- Article
- ISSN
- 0378-1119
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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
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
Multiple osteochondromas (MO) is a hereditary skeletal disorder characterized by the presence of cartilage capped bony outgrowths at bone surface. Causative mutations in EXT1 or EXT2 genes have been described in 85-90 % of MO cases. However, in about 10-15 % of the MO cases, genomic alterations can