相关实验视频

Updated: May 9, 2025

Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR
09:16

Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR

Published on: February 5, 2018

6.1K

在产前诊断过程中偶然发现了DMD48-55外显子的删除

Min Zhang1, Zhaodong Lin2, Meihuan Chen1

  • 1Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian, China.

Frontiers in pediatrics
|May 2, 2025
PubMed
概括

这项研究报告了在产前诊断期间发现的DMD基因 (48-55外显子) 缺失. 这一发现突显了DMD变体的多样化表型,并警告不仅仅依赖分子数据来预测严重程度.

关键词:
在 DMD DMD 里面,你会发现在LRS中使用LRS.在MLPA中,我们可以使用MLPA.这是一个SNP-array.没有症状的无症状.

更多相关视频

Using Rapid Serial Visual Presentation to Measure Set-Specific Capture, a Consequence of Distraction While Multitasking05:58

Using Rapid Serial Visual Presentation to Measure Set-Specific Capture, a Consequence of Distraction While Multitasking

Published on: August 29, 2018

8.8K
Handheld Metal Detector Screening for Metallic Foreign Body Ingestion in Children04:55

Handheld Metal Detector Screening for Metallic Foreign Body Ingestion in Children

Published on: September 11, 2018

10.6K

相关概念视频

Inductively Coupled Plasma-Mass Spectrometry (ICP-MS): Interferences01:20

Inductively Coupled Plasma-Mass Spectrometry (ICP-MS): Interferences

Inductively coupled plasma–mass spectrometry (ICP–MS) is a highly selective and sensitive technique for accurate elemental analysis. Though the analysis of ICP–MS mass spectra is comparatively straightforward, it is affected by spectroscopic and non-spectroscopic interferences. Spectroscopic interferences arise when the plasma contains ionic species with an m/z value the same as the analyte ion. Spectroscopic interference can be categorized as isobaric, polyatomic ions, and...
321