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Ewing sarcoma breakpoint region 1
RNA-binding protein EWS is a protein that in humans is encoded by the ''EWSR1'' gene on human chromosome 22.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2130 )〕 This gene encodes a putative RNA binding protein. Alternative splicing of this gene results in two products.〔 == Clinical relevance ==
Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma and other members of the Ewing family of tumors. Other mutations have also been associated to amyotrophic lateral sclerosis.
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「Ewing sarcoma breakpoint region 1」の詳細全文を読む
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