MUTATIONS AND POLYMORPHISMS IN THE HUMAN ORNITHINE TRANSCARBAMYLASE GENE - MUTATION UPDATE ADDENDUM
MUTATIONS AND POLYMORPHISMS IN THE HUMAN ORNITHINE TRANSCARBAMYLASE GENE - MUTATION UPDATE ADDENDUM
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DOI：
10.1002/humu.1380050404
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发表时间：
1995-01-01
期刊：
影响因子：
3.9
通讯作者：
PLANTE, RJ
中科院分区：
文献类型：
--
作者：
TUCHMAN, M;PLANTE, RJ
本突变更新附录总结了自第一次突变更新在本杂志上发表以来在鸟氨酸转氨甲酰酶（OTC）基因中发现的30个新突变和多态性。因此，目前已知OTC基因中有60多种突变和多态性。大多数突变发生在一个家族中，少数重复突变发生在CpG二核苷酸中。大多数突变的假定有害作用有待通过适当的表达研究来证实。一旦酶的三级结构完全已知，并且功能结构域建立，突变的影响或缺乏突变的影响就可以更好地预测。(C)1995 Wiley-Liss，Inc.
This mutation update addendum summarizes 30 new mutations and polymorphisms found in the ornithine transcarbamylase (OTC) gene since the publication in this journal of the first mutation update. Thus, more than 60 mutations and polymorphisms in the OTC gene are currently known. Most of the mutations have been seen in a single family and the few recurrent mutations occurred in CpG dinucleotides. The presumed deleterious effects of most mutations await confirmation by appropriate expression studies. Once the tertiary structure of the enzyme is fully known, and the functional domains established, the effects of mutations, or lack thereof, could be better predicted. (C) 1995 Wiley-Liss, Inc.