遗传性红细胞酶病
Hereditary red cell enzymopathies.
作者信息
Arya R, Layton D M, Bellingham A J
机构信息
Department of Haematological Medicine, King's College Hospital, London, UK.
出版信息
Blood Rev. 1995 Sep;9(3):165-75. doi: 10.1016/0268-960x(95)90022-5.
PMID:8563518
Abstract
The hereditary red cell enzymopathies are an uncommon but important cause of chronic haemolytic anaemia. Their clinical diversity is mirrored by increasingly evident heterogeneity at the molecular level. The structure, function, and expression of the genes encoding red cell enzymes and the nature of the gene defects in the deficient state are examined.
摘要
遗传性红细胞酶病是慢性溶血性贫血的一个少见但重要的病因。它们在临床上的多样性反映出分子水平上日益明显的异质性。本文对编码红细胞酶的基因的结构、功能、表达以及缺陷状态下基因缺陷的性质进行了研究。
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