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Case of D-Variant from a Frameshift Mutation RHD 711delC / 대한수혈학회지
Korean Journal of Blood Transfusion ; : 168-173, 2019.
Article in Korean | WPRIM | ID: wpr-759588
ABSTRACT
D antigens are clinically significant, and routine tests on the D antigen requires the inclusion of weak D testing, which is performed using indirect antihuman immunoglobulin methods. On the other hand, exact typing of the D type of an individual can be done more precisely with RHD genotyping, which is a useful tool in cases where the RHD gene is intact. The majority of weak-D or partial-D cases are from single nucleotide changes or hybridization of RHD and RHCE genes. Nevertheless, frameshift mutations can also result in weak or partial-D. The characteristics of a frameshift mutation is typically a change in protein product after a problematic mutation and early termination of transcription, leading into truncated protein products. This paper reports a D-variant case with RHD 711delC along with a review of the relevant literature. In addition, the results of software analysis are reported.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Immunoglobulins / Frameshift Mutation / Genotype / Hand Language: Korean Journal: Korean Journal of Blood Transfusion Year: 2019 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Immunoglobulins / Frameshift Mutation / Genotype / Hand Language: Korean Journal: Korean Journal of Blood Transfusion Year: 2019 Type: Article