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三名患有Leber视神经病变患者体内的硫氰酸酶同工酶

Rhodanese isozymes in three subjects with Leber's optic neuropathy.

作者信息

Whitehouse D B, Poole C J, Kind P R, Hopkinson D A

机构信息

MRC Human Biochemical Genetics Unit, Galton Laboratory, University College London.

出版信息

J Med Genet. 1989 Feb;26(2):113-5. doi: 10.1136/jmg.26.2.113.

Abstract

Previous studies have reported an association between Leber's optic neuropathy and deficiency of rhodanese activity in liver and rectal mucosa. We have studied the rhodanese isozymes in liver biopsies from three subjects with Leber's optic neuropathy. The rhodanese isozyme patterns were indistinguishable from controls both in relative intensity and position on the isoelectric focusing pH gradient. No new rhodanese isozymes were observed and there was no evidence of deficiency in any of the cases.

摘要

以往的研究报告了莱伯视神经病变与肝脏和直肠黏膜中硫氰酸酶活性缺乏之间的关联。我们研究了三名莱伯视神经病变患者肝脏活检组织中的硫氰酸酶同工酶。硫氰酸酶同工酶模式在等电聚焦pH梯度上的相对强度和位置与对照组均无差异。未观察到新的硫氰酸酶同工酶,且所有病例均无缺乏的证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/07a4/1015561/423e20e8e623/jmedgene00052-0042-a.jpg

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