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Article

Effect of SNPs on creatine kinase structure and function: identifying potential molecular mechanisms for possible creatine kinase deficiency diseases.

PloS one - 1 Jan 2012

Li Chang, Zhang Qian, Hu Wei-Jiang, Mu Hang, Lin Zong, Ma Long, Park Yong-Doo, Zhou Hai-Meng

Abstract excerpt

Single-nucleotide polymorphisms (SNPs) are common genetic material changes that often occur naturally. SNPs can cause amino acid replacements that may lead to severe diseases, such as the well-known sickle-cell anemia. We constructed eight SNP mutants of human brain-type creatine kinase (CKB) based on bioinformatics predictions. The biochemical and biophysical characteristics of these SNP mutants were determined...

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Identifiers

PMID: 23049898
DOI: 10.1371/journal.pone.0045949
PMCID: PMC3457962

Genes

CKB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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