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EFTUD2
116 kDa U5 small nuclear ribonucleoprotein component is a protein that in humans is encoded by the ''EFTUD2'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9343 )〕 == Disease associations ==
Heterozygous loss-of-function mutations in ''EFTUD2'' cause Mandibulofacial Dysostosis with Microcephaly (MFDM; OMIM (#610536 )), a multiple malformation syndrome comprising progressive microcephaly (present in all affected individuals), craniofacial skeletal anomalies, cleft palate, deafness, choanal atresia, small stature, and/or cardiac and thumb anomalies.
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「EFTUD2」の詳細全文を読む
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