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在产前诊断中出现一个不寻常的 de novo RAC3 变异

Colombine Meunier1, Marie Cassart2, Karole Kostyla3

  • 1Institut de Pathologie et de Génétique, IPG, 25, Avenue Georges Lemaitre, 6041, Gosselies, Belgium. colombine.meunier@ipg.be.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
|January 12, 2024
PubMed
概括

在RAC3基因的致病变体导致NEDBAF,一个神经发育障碍. 这份报告详细介绍了一个患有独特大脑形的胎儿,扩大了这种罕见遗传疾病的已知范围.

关键词:
在RAC3中,RAC3是指RAC3.大脑发育不良的情况.根据NEDBAF的说法,NEDBAF是一个国家.产前诊断 在产前诊断.腹腔大的病例之一是风腔大.

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Rapid Amplification of cDNA Ends, or RACE, is one of the most effective methods to obtain a full-length cDNA from an mRNA sequence between a known internal region to the unknown sequence at the 5’ or 3’ end. The unknown region is cloned in the cDNA by a gene-specific primer that binds the known end, and a hybrid primer that attaches a predefined anchor sequence to the unknown end of the cDNA. The sequence in between is amplified by PCR with an anchor primer and a gene-specific...
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