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Article

Integrated analyses reveal unexpected complex inversion and recombination in RH genes.

Blood advances - 25 Jun 2024

Li Minghao, Wang Liping, Li Aijing, Wang Bo, Yang Xiaohong, Zhang Yue, Chen Chaoqiong, Sun Futing, Zhu Ziyan, Ye Luyi

Abstract excerpt

ABSTRACT: Phenotype D-- is associated with severe hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. It is typically caused by defective RHCE genes. In this study, we identified a D-- phenotype proband and verified Rh phenotypes of other 6 family members. However, inconsistent results between the phenotypic analysis and Sanger sequencing revealed intact RHCE exons with no mutations in...

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Source

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Identifiers

PMID: 38551808
DOI: 10.1182/bloodadvances.2023012147
PMCID: PMC11222952

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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