在两个无关儿童中，鸟氨酸氨甲酰基转移酶基因第8外显子出现一种新的从精氨酸（245位）到谷氨酰胺的变化，这两个儿童表现为迟发性缺乏且具有相同的酶学模式。 - Suppr | 超能文献

A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.

作者信息

Gilbert-Dussardier B, Rabier D, Strautnieks S, Segues B, Bonnefont J P, Munnich A

机构信息

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U 393 Hôpital des Enfants-Malades, Paris, France.

出版信息

Hum Mol Genet. 1994 May;3(5):831-2. doi: 10.1093/hmg/3.5.831.

DOI:10.1093/hmg/3.5.831

Abstract

摘要

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Identification of four novel splice site mutations in the ornithine transcarbamylase gene.鸟氨酸转氨甲酰酶基因中四个新剪接位点突变的鉴定。

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