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Updated: May 1, 2026

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

Published on: June 15, 2011

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与GMNN和DLL1突变相关的脊柱状骨上突:一个病例报告

Joonhwan Lee1, Byungju Ryu2, Yunhee Kim1

  • 1Department of Physical Medicine and Rehabilitation, Sahmyook Medical Center, Seoul, Korea.

Journal of Yeungnam medical science
|December 11, 2024
PubMed
概括

脊柱状关节突综合征 (SCTS) 是一种罕见的遗传性疾病. 本报告详细介绍了一个与新型GMNN和DLL1基因突变相关的独特SCTS病例,扩大了我们对这种疾病的理解.

关键词:
椎椎是椎的第一个部分.放射性突突突突突突.脊柱状骨上的协同静止.

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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,...
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