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GENETIC TESTING OF TELOMERE-ASSOCIATED GENES IN DYSKERATOSIS CONGENITA AND RELATED DISORDERS
GENETIC TESTING OF TELOMERE-ASSOCIATED GENES IN DYSKERATOSIS CONGENITA AND RELATED DISORDERS
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机译:糖尿病患者先天性端粒相关基因的遗传学检测及相关疾病
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摘要
The present invention features methods of detection, diagnosing a presence or a predisposition to, or determining the risk for a subject to develop telomere-associated diseases or disorders. The methods include detecting the presence or absence of an alteration in a nucleic acid in a sample. The methods also include determining telomere length. In certain cases, average telomere length is a surrogate marker for a telomere-associated disease or disorder.
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