Article
The synonymous nucleotide substitution RHD 1056C>G alters mRNA splicing associated with serologically weak D phenotype.
Journal of clinical laboratory analysis - 1 May 2018
Chun Sejong, Yun Jae Won, Park Geon, Cho Duck
Abstract excerpt
BACKGROUND: D antigen is one of the most clinically significant blood group antigens. Variation of the RHD gene can cause weak D or partial D phenotypes. While most variations are missense substitutions with amino acid changes, those without are called "silent" or "synonymous" substitutions. Synonymous substitutions often have little effect on the protein, not altering the phenotype. However, effect on splicing...
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