Mutant EXT1 in Taiwanese patients with multiple hereditary exostoses
Journal
BioMedicine (Netherlands)
Journal Volume
4
Journal Issue
2
Pages
23-28
Date Issued
2014
Author(s)
Abstract
BACKGROUND: . METHODS: , including intron/exon boundaries, sequenced via DNA samples drawn from participants. RESULTS: gene in both cases, within which frame-shift mutation c.447delC (p.Ser149fsX156) in exon1 and nonsense mutation c.2034T>G (p.Tyr678X) in exon10, emerged. Neither mutation was detected in control group. CONCLUSIONS: in Taiwanese MHE patients.
Publisher
China Medical University
Type
journal article