Haploinsufficiency and telomere length homeostasis.

Abstract excerpt

In humans, autosomal dominant or X-linked disease can arise through a phenomenon termed haploinsufficiency, where one remaining wild-type allele is insufficient for function. In model organisms, the impact of heterozygosity can be tested directly with engineered mutant alleles or in a hemizygous state where the expression of one allele is abrogated completely. This review will focus on haploinsufficiency as it...

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