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  • 标题:Apolipoprotein B-52 mutation associated with hypobetalipoproteinemia is compatible with a misaligned pairing deletion mechanism.
  • 本地全文:下载
  • 作者:W A Groenewegen ; E S Krul ; G Schonfeld
  • 期刊名称:JLR Papers In Press
  • 印刷版ISSN:0022-2275
  • 电子版ISSN:1539-7262
  • 出版年度:1993
  • 卷号:34
  • 期号:6
  • 页码:971-981
  • 语种:English
  • 出版社:American Society for Biochemistry and Molecular Biology
  • 摘要:We have identified a new truncation of apoB in a large kindred with hypobetalipoproteinemia that arose by an ambiguous deletion of one of four different groups of base-pairs. Eleven affected members of the kindred had total cholesterols (C) of 114 +/- 28, LDL-Cs of 46 +/- 21, and apoBs of 47 +/- 25 (all in mg/dl, mean +/- SD). These levels were lower (P
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