由胆色素原脱氨酶辅因子结合裂隙中精氨酸到组氨酸的替换（R26H）引起的急性间歇性卟啉症。 - Suppr

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超能文献

Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.

作者信息

Llewellyn D H, Whatley S, Elder G H

机构信息

Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.

出版信息

Hum Mol Genet. 1993 Aug;2(8):1315-6. doi: 10.1093/hmg/2.8.1315.

DOI:10.1093/hmg/2.8.1315

PMID:8401516

Abstract

摘要

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