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ST3GAL5
Lactosylceramide alpha-2,3-sialyltransferase is an enzyme that in humans is encoded by the ''ST3GAL5'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8869 )〕
Mutations in this gene have also been associated to ‘Salt & Pepper’ syndrome: an autosomal recessive condition characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation (doi: 10.1093/hmg/ddt434) ==References==
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「ST3GAL5」の詳細全文を読む
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