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一个新的平滑 (SMO) 点突变在先天性骨血症:一个案例报告

Xiaodong Yang1, Siyu Pu1, Bo Xiang1

  • 1Department of Pediatric Surgery, West China Hospital, Sichuan University, #37 Guo-Xue-Xiang, Chengdu, 610041, China.

BMC pediatrics
|August 25, 2023
PubMed
概括

先天性骨血 (CTH) 可能与光滑 (SMO) 基因突变有关. 这项研究在患有CTH的患者中发现了新的SMO突变,表明它在人类四肢发育中的作用.

关键词:
这是一种先天性异常.他们是多面指甲的.这是一个SMO SMO.阴半身病 (tibial hemimelia) 是一个

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Point and Frameshift Mutations01:30

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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