نتایج جستجو برای: actn3

تعداد نتایج: 244  

Journal: :American journal of human genetics 2009
Bryndis Yngvadottir Yali Xue Steve Searle Sarah Hunt Marcos Delgado Jonathan Morrison Pamela Whittaker Panos Deloukas Chris Tyler-Smith

Nonsense SNPs introduce premature termination codons into genes and can result in the absence of a gene product or in a truncated and potentially harmful protein, so they are often considered disadvantageous and are associated with disease susceptibility. As such, we might expect the disrupted allele to be rare and, in healthy people, observed only in a heterozygous state. However, some, like t...

2017
Juan Del Coso Marjorie Valero Juan José Salinero Beatriz Lara César Gallo-Salazar Francisco Areces

PURPOSE Exertional rhabdomyolysis can occur in individuals performing various types of exercise but it is unclear why some individuals develop this condition while others do not. Previous investigations have determined the role of several single nucleotide polymorphisms (SNPs) to explain inter-individual variability of serum creatine kinase (CK) concentrations after exertional muscle damage. Ho...

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