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Updated: Jul 27, 2025

Transcription Start Site Mapping Using Super-low Input Carrier-CAGE
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Transcription Start Site Mapping Using Super-low Input Carrier-CAGE

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在一个无意义的 p.Trp230* 变体中的高载波频率

Nina Makretskaya1, Natalia Kalinchenko2, Inna Tebieva3

  • 1Department of Genetics of Endocrine Diseases, Research Centre for Medical Genetics, Moscow, Russia.

Frontiers in endocrinology
|June 5, 2023
PubMed
概括

该p.Trp230*变体是奥塞梯人群中先天性上腺增生症 (CAH) 的常见原因,可能是由于创始人效应. 这项研究确定了北奥塞梯-阿拉尼亚地区这种CAH引起变异的载体率和频率.

关键词:
在 CAH CAH 中.这就是HSD3B2的原因.俄塞提亚人 俄塞提亚人缺乏3β-hydroxysteroid脱酶的存在在实时PCR中进行实时PCR.

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