Article

A novel mutation of EXT2 gene in a Chinese family with hereditary multiple exostosis

2023-12-11

Abstract excerpt

<h4>Objective: </h4> This study aimed to identify potential pathogenic mutations in EXT1 and EXT2 genes in a Chinese family with hereditary multiple exostosis (HME). Methods We directly sequenced exon regions (1–11 for EXT1 gene and 1–14 for EXT2 gene) after amplification of the genomic DNA extracted from the blood samples of the collected family. DANStar and comoparative analysis were used to confirm possible va...

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Literature Corpus work: e0cb640b-cf3d-5504-a5b7-2a72c27d6934
DOI: 10.21203/rs.3.rs-3712820/v1

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