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与DNA和染色体不稳定相关的遗传疾病。

Genetic diseases associated with DNA and chromosomal instability.

作者信息

Lambert W C

出版信息

Dermatol Clin. 1987 Jan;5(1):85-108.

PMID:3549081
Abstract

Diseases associated with DNA and chromosomal instability, along with their underlying etiopathologic mechanisms, are among the most complex and poorly understood of any group of disorders known. Their pathogenesis is almost certainly intimately related to the most fundamental processes of life itself: the maintenance, replication, and expression of the genome. Include is a discussion of xeroderma pigmentosum, ataxia-telangiectasia. Cockayne's syndrome, Fanconi's anemia, retinoblastoma, and neurodegenerative diseases.

摘要

与DNA和染色体不稳定相关的疾病及其潜在的病因病理机制,是已知的所有疾病组中最复杂且了解最少的。它们的发病机制几乎肯定与生命本身最基本的过程密切相关:基因组的维持、复制和表达。其中包括对色素性干皮病、共济失调毛细血管扩张症、科凯恩综合征、范可尼贫血、视网膜母细胞瘤和神经退行性疾病的讨论。

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