MOLECULAR ABNORMALITIES OF COPROPORPHYRINOGEN OXIDASE IN PATIENTS WITH HEREDITARY COPROPORPHYRIA

被引：19

作者：

GRANDCHAMP, B ^{[1
]}

LAMORIL, J ^{[1
]}

PUY, H ^{[1
]}

机构：

[1] FAC XAVIER BICHAT,ASSOC CLAUDE BERNARD,F-75018 PARIS,FRANCE

来源：

JOURNAL OF BIOENERGETICS AND BIOMEMBRANES | 1995年 / 27卷 / 02期

关键词：

COPROPORPHYRINOGEN OXIDASE; HEREDITARY COPROPORPHYRIA; CDNA; GENE; MUTATIONS;

D O I：

10.1007/BF02110036

中图分类号：

Q6 [生物物理学];

学科分类号：

071011 ;

摘要：

Genetic defects of coproporphyrinogen oxidase (CPO) lead to hereditary coproporphyria, an inherited autosomal dominant porphyria. The recent cloning of human cDNAs and of the gene encoding CPO permits deducing the primary structure of the CPO protein and elucidating the molecular basis of HC in some families.

引用

页码：215 / 219

页数：5

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