[Family Studies of a New Allele of the B<sub>el</sub> subtype (c.803G>T, p.Gly268Val)].

In this family line, the proband, her father, her son, and her daughter all have reduced <i>B</i> type glycosyltransferase activity due to the new point mutation (c.803G>T) in exon 7 of the <i>B</i> gene, and the B antigen can only be detected by the absorption-dispersal method, and the point mutation can be stably inherited by offspring.

Authors

Xiaoli Ma (ORCID: https://orcid.org/0000-0003-3465-3424)
Yang Yu (ORCID: https://orcid.org/0000-0002-9390-1080)
Meiyu Geng (ORCID: https://orcid.org/0000-0002-7362-0847)
Hecai Yang
Liping Wang (ORCID: https://orcid.org/0000-0001-9477-715X)
Wei Dong (ORCID: https://orcid.org/0000-0002-9377-0121)

Institutions

Chinese PLA General Hospital (CN)
Beijing Red Cross Blood Center (CN)

Publication Details

Journal: PubMed
Published: 2025-04-01
DOI: https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.02.029
Primary Topic: Genetic Neurodegenerative Diseases
Type: article

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article

[Family Studies of a New Allele of the B_el subtype (c.803G>T, p.Gly268Val)].

Xiaoli Ma, Yang Yu, Meiyu Geng, Hecai Yang et al.

Apr 1, 2025

PubMed

Genetic Neurodegenerative Diseases

article

[Family Studies of a New Allele of the B_el subtype (c.803G>T, p.Gly268Val)].

Xiaoli Ma, Yang Yu, Meiyu Geng, Hecai Yang, Liping Wang, Wei Dong

April 1, 2025article en

Abstract

In this family line, the proband, her father, her son, and her daughter all have reduced <i>B</i> type glycosyltransferase activity due to the new point mutation (c.803G>T) in exon 7 of the <i>B</i> gene, and the B antigen can only be detected by the absorption-dispersal method, and the point mutation can be stably inherited by offspring.

PubMedVol. 33(2)

Chinese PLA General Hospital (CN), Beijing Red Cross Blood Center (CN)

Genetic Neurodegenerative Diseases

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