Molecular basis of telomere dysfunction in human genetic diseases

被引：0
|
作者：
Grzegorz Sarek
Paulina Marzec
Pol Margalef
Simon J Boulton
机构：
[1] DNA Damage Response Laboratory,
[2] Francis Crick Institute,undefined
来源：
Nature Structural & Molecular Biology | 2015年 / 22卷
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学科分类号：
摘要：
Genetic mutations that compromise telomere-length maintenance give rise to a group of related human diseases called telomere biology disorders. This Review discusses the molecular functions impaired by disease-associated mutations as well as modes of inheritance and clinical manifestations.
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页码：867 / 874
页数：7
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