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Updated: Sep 11, 2025

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一种经常出现的拼接变体揭示了在一个独特的大队列中11β-基酶缺乏的情况

Clément Janot1,2,3, Delphine Mallet1, Alexandre Janin1,4

  • 1Hospices Civils de Lyon, LBMMS, Service de Biochimie et Biologie moléculaire, Centre de Biologie et de Pathologie Est, Bron cedex F-69677, France.

The Journal of clinical endocrinology and metabolism
|August 19, 2025
PubMed
概括

在11β-基酶缺乏 (11βOHD) 患者中发现了一种新型拼接变体c.954+148C>G. 这种复发的变异破坏了拼接,与严重突变相比,与较轻微的临床特征有关.

关键词:
缺少11b-基酶的情况在CYP11B1B1中.出生性上腺增生症.分子生物学分子生物学拼接 拼接 拼接 拼接

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