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Updated: Dec 3, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
A novel RHD allele caused by c.739 G> C mutation was identified in a Chinese individual
Hongjuan Lyu1, Shuxian Jiao2, Wenhui Ma2
1Department of Obstetrics, Qingdao Women and Children's Hospital, Qingdao, China.
Abstract:
The blood sample of a pregnant Chinese woman of the north Han population was confirmed as D variation by serologic method, and subsequent detection of RHD Exons 1 through 10 by the polymerase chain reaction-sequence-specific primer test showed that all exons were present. To further clarify the molecular mechanism of this sample, we sequenced the RHD Exons 1 through 10 and found that it was a novel allele caused by c.739 G> C in Exon 5.
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