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Updated: Jun 5, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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不寻常的PHEX变种意味着X链接的低酸性狂犬病的不常见遗传机制

Lama Alzoebie1, Dong Li2,3, Xiang Wang3

  • 1Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States.

JBMR plus
|December 16, 2024
PubMed
概括

这项研究确定了PHEX基因中不寻常的遗传变异,导致X链接的低酸性狂犬病 (XLH). 这些发现强调了需要先进的基因测试来有效诊断XLH.

关键词:
联邦政府财政基金23在PHEXX中,PHEX就是PHEX.XLH XLH 在线观看低酸盐血症是什么意思这是下一代测序.拉基茨 (Rickets) 是一种精神疾病.

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