[与高鸟氨酸血症及脉络膜视网膜回旋状萎缩相关的肌肉萎缩和管状聚集物——两兄弟的病例报告] - Suppr | 超能文献

[Muscular atrophy and tubular aggregates associated with hyperornithinemia and gyrate atrophy of the choroid and retina--report of two brothers].

作者信息

Tsunoda S, Shiozawa Z, Kobayashi M, Takei M

出版信息

Rinsho Shinkeigaku. 1986 May;26(5):479-82.

Abstract

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引用本文的文献

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A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.鸟氨酸转氨酶成熟序列中的单个氨基酸取代阻碍了前体进入线粒体。

Am J Hum Genet. 1995 Aug;57(2):284-91.