The novel missense variant c.350G>T on the ABO * B.01 allele associated with a B el phenotype-Reference-Cited by-同舟云学术

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The novel missense variant c.350G>T on the ABO * B.01 allele associated with a B el phenotype

Published:2020-09-22 Issue:10 Volume:60 Page:
ISSN:0041-1132
Container-title:Transfusion
language:en
Short-container-title:Transfusion

Author:

Kim Tae Yeul¹^ORCID,Yu HongBi²,Chung Yoo Na¹,Jang Ja‐Hyun¹,Cho Duck¹²

Affiliation:

1. Department of Laboratory Medicine and Genetics, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul South Korea

2. Department of Health Sciences and Technology Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University Seoul South Korea

Publisher

Wiley

Subject

Hematology,Immunology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/trf.16033

Reference5 articles.

1. Association of ABO gene mutations resulting in a rare B subgroup

2. Molecular genetic analysis of ABO blood group variations reveals 29 novel ABO subgroup alleles

3. The p.R168Q mutation is associated with the Bwphenotype and a predicted decrease in the stability of the resulting ABO glycosyltransferase

4. Genomic analysis of clinical samples with serologic ABO blood grouping discrepancies: identification of 15 novel A and B subgroup alleles

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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