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Updated: Sep 11, 2025

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在阿拉伯半岛的以色列贝都因人祖先中,自体逆性多囊性病的内部和编码遗传变异

Nadav Agam1, Ohad Wormser1, Ari Biller1

  • 1The Morris Kahn Laboratory of Human Genetics, National Institute of Biotechnology in the Negev, Ben Gurion University of the Negev, Be'er Sheva, Israel; Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel.

American journal of kidney diseases : the official journal of the National Kidney Foundation
|August 15, 2025
PubMed
概括

在以色列贝都因家庭中发现了一种新型的深内基PKHD1突变,导致自体逆性多囊性病 (ARPKD). 全基因组测序揭示了一种创始突变,导致异常拼接和过早停止密码子,改善ARPKD诊断.

关键词:
在 ARPKD 里.贝都因人 贝都因人一个PKHD1的PKHD1自体递归多囊性脏疾病.深层内部突变的突变.中东地区,中东地区.

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