Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.
Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.
复制标题
鸟氨酸转氨甲酰酶缺乏症患者的“私人”突变的鉴定。
DOI：
10.1023/a:1005301513465
复制
发表时间：
1997
影响因子：
4.2
通讯作者：
Allewell,NM
中科院分区：
文献类型：
--
作者：
Tuchman,M;Morizono,H;Rajagopal,BS;Plante,RJ;Allewell,NM
大多数的情况下，鸟氨酸转氨甲酰酶缺乏症是由于新的突变，使其不可能开发通用的方法进行遗传分析。然而，鉴定致病突变对诊断（特别是产前诊断）、预测可能的病程和结局以及最终的基因治疗可能性具有重要意义。作为一个持续的研究的一部分，鸟氨酸转氨甲酰酶缺乏症，我们现在报告另外30个新的突变的鸟氨酸转氨甲酰酶基因，连同其临床表现的简要总结。
The majority of cases of ornithine transcarbamylase deficiency are due to novel mutations making it impossible to develop common methods for genetic analysis. However, identification of causative mutations has important implications for diagnosis (particularly prenatal diagnosis), prediction of likely course and outcome and the eventual possibility of gene therapy. As part of a continuing study of ornithine transcarbamylase deficiency, we now report an additional thirty novel mutations in the ornithine transcarbamylase gene, together with a brief summary of their clinical presentations.