这个自发的27kb删除始于第三外显子,延伸至间隔区,包含了粘多糖N-乙酰半乳糖胺转移酶(CHGN)域,从而产生了一个功能丧失的变异。 (Source: This information is provided)
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This spontaneous 27-kb deletion begins in the third exon and extends into the intergenic sequence, thus including the chondroitin N-acetylgalactosaminyltransferase (CHGN) domain and creating a loss of function mutation.