相关实验视频

Updated: May 7, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

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

Published on: June 15, 2011

26.0K

鉴定了来自Khyber Pakhtunkhwa的小头症家族的ASPM基因突变

Arsalan Waqas Ahmad Shah1, Laraib Shah2, Fawad Inayat3

  • 1Institute of Health Sciences Swabi, Khyber Medical University, Peshawar, 25000, Pakistan.

Molecular biology reports
|August 14, 2025
PubMed
概括

微头症是一种神经发育障碍,在两个巴基斯坦家庭中进行了研究. 一种已知的ASPM基因突变导致了A家族的小头症,而B家族的新型变异与这种情况无关.

关键词:
发生ASPM基因突变.自体逆行性疾病 自体逆行性疾病微头症是一个微头症.无稽之谈中介的衰变是没有意义的.桑格尔测序是什么意思

更多相关视频

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K
Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

11.0K

相关概念视频

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...