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簡要描述：NSDHL is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene.
產品型號：bsm-62923R廠商性質：生產廠家更新時間：2025-03-04訪 問 量： 116詳細介紹
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