Novel homozygous mutation of SPG20 gene results in the Troyer syndrome in China
收藏Mendeley Data2026-04-09 收录
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whole exome sequencing identified homozygous mutation of a new splice site c.1734-1 G>C in SPG20 gene, cause a frame shift after aa 577 and expression a truncated 598-aa protein (wild type SPG20 is 666 aa).
