相关实验视频

Updated: Sep 15, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.9K

案例报告:在南非患有马凡综合征的患者中进行FBN1突变查

F Mhlongo1, C Feben1, A Krause1

  • 1Division of Human Genetics, National Health Laboratory Service & School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa.

Frontiers in genetics
|July 17, 2025
PubMed
概括

南非的马凡综合征 (MFS) 诊断通过FBN1基因突变查得到加强. 这项研究在11名MFS患者中发现了7种FBN1变异,其中包括2种新型变异,证实了其诊断效用.

关键词:
在FBN1基因中,马芬综合征是什么意思 马芬综合征是什么意思一系列的案例系列.在非洲的遗传诊断.分子确认分子确认.没有充分研究的人口.

更多相关视频

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.0K
Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development05:44

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development

Published on: May 17, 2024

722

相关概念视频