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The role of the inherited disorders of hemoglobin, the first "molecular diseases," in the future of human genetics.
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2013-07-03 , DOI: 10.1146/annurev-genom-091212-153500
David J Weatherall 1
Affiliation  

Although the inherited hemoglobin disorders were the first genetic diseases to be explored at the molecular level, they still have important messages for the future of medical genetics. In particular, they can offer a better understanding of the evolutionary and population biology of genetic disease, the mechanisms that underlie the phenotypic diversity of monogenic disease, and how, by developing appropriate partnerships, richer countries can help low-income countries to evolve programs for the control and management of these diseases where, in many cases, they are particularly common.

中文翻译:

血红蛋白遗传性疾病,第一个“分子疾病”,在人类遗传学的未来中的作用。

尽管遗传性血红蛋白疾病是最早在分子水平上进行探索的遗传疾病,但它们对于医学遗传学的未来仍然具有重要意义。特别是,它们可以更好地了解遗传疾病的进化和种群生物学、单基因疾病表型多样性背后的机制,以及富裕国家如何通过发展适当的伙伴关系来帮助低收入国家制定计划控制和管理这些疾病,在许多情况下,它们特别常见。
更新日期:2013-09-04
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