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NONINVASIVE PRENATAL DIAGNOSIS OF SINGLE-GENE DISORDERS USING DROPLET DIGITAL PCR
NONINVASIVE PRENATAL DIAGNOSIS OF SINGLE-GENE DISORDERS USING DROPLET DIGITAL PCR
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机译:液滴数字PCR无创性诊断单基因疾病
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摘要
Methods for detection of single nucleotide mutations of autosomal recessive diseases as early as the first trimester of pregnancy are provided. This is of importance for metabolic disorders where early diagnosis can affect management of the disease and reduce complications and anxiety related to invasive testing.
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