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

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...

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Principais autores:	Chang Li, Qian Zhang, Wei-Jiang Hu, Hang Mu, Zong Lin, Long Ma, Yong-Doo Park, Hai-Meng Zhou
格式:	Artigo
语言:	Inglês
出版:	Public Library of Science (PLoS) 2012-01-01
丛编:	PLoS ONE
在线阅读:	http://europepmc.org/articles/PMC3457962?pdf=render
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