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Updated: Jul 7, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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鉴定了来自20个低水分性外皮形症家族的EDA中的6种新突变

Qin Xing1, Qimin Zhou1, Hongyan Li1

  • 1Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics & Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Key Laboratory of Rare Pediatric Diseases, Ministry of Education, Central South University, Changsha, China.

Oral diseases
|December 22, 2023
PubMed
概括

基因分析在X链接的低性外皮张症患者中发现了新的ectodysplasin-A突变,澄清了基因型-表型关系并帮助诊断.

关键词:
一个EDA,一个EDA.在WES WES中,您可以使用与X相关的低水分性外皮外皮发育不良症.细胞次部位化的细胞分部位化拼接变体的拼接变体

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Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
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