The identification of a novel frameshift insertion mutation in the EXT1
gene in a Chinese family with Hereditary Multiple Exostoses
Abstract
A novel heterozygous mutation (c.325dup) was identified in EXT1 gene
from the proband and the affected family members; this mutation was
absent in all the unaffected family members. The identification of the
novel frameshift insertion mutation (c.325dup) expands the mutation
spectrum of HME, which provides new evidence for HME diagnosis.
