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[Para-Bombay phenotype due to bi-allelic heterozygous base deletions of FUT1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2022

He Ziyi, Hu Yingming, Xu Xianguo, Wu Yuanjun, Cui Siping

Abstract excerpt

OBJECTIVE: To explore the genetic mechanism underlying a case with para-Bombay phenotype. METHODS: The ABO and Lewis phenotype were identified with serological methods. The coding regions of exons 6 and 7 of the ABO and FUT1 genes were amplified with PCR and directly sequenced. Haploid sequence analysis was carried out on the variant sites of the FUT1 gene. RESULTS: Serological analysis confirmed that the proband...

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PMID: 36317221
DOI: 10.3760/cma.j.cn511374-20211124-00934

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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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