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Allelic Enhancement of With the Single Nucleotide Variant, c.669G>T.

作者信息

Bae Go Eun, Kim Tae Yeul, Yu HongBi, Seo Ji-Young, Suh Jang Soo, Chang Soon Hee, Cho Duck

机构信息

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

Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University School, Seoul, Korea.

出版信息

Ann Lab Med. 2023 Jan 1;43(1):124-126. doi: 10.3343/alm.2023.43.1.124. Epub 2022 Sep 1.

DOI:10.3343/alm.2023.43.1.124
PMID:36045071
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9467837/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a50/9467837/e7e0f904148c/alm-43-1-124-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a50/9467837/e7e0f904148c/alm-43-1-124-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a50/9467837/e7e0f904148c/alm-43-1-124-f1.jpg

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本文引用的文献

1
Investigation of Discrepant ABO Blood Grouping Results from an Autoanalyzer.自动分析仪导致的 ABO 血型不合结果调查。
Ann Lab Med. 2022 Nov 1;42(6):650-658. doi: 10.3343/alm.2022.42.6.650.
2
[Investigation of ABO allelic competition phenomena in a pedigree with Bw11 subtype].[一个具有Bw11亚型的家系中ABO等位基因竞争现象的研究]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jan 10;38(1):23-26. doi: 10.3760/cma.j.cn511374-20200103-00004.
3
-AB, the Blood Group of Many Faces, Is a Conundrum to the Novice Eye.AB 血型,多面之血,让新手困惑。
Ann Lab Med. 2019 Mar;39(2):115-120. doi: 10.3343/alm.2019.39.2.115.
4
A novel a subtype allele that demonstrates allelic competition.一种表现出等位基因竞争的新型a亚型等位基因。
Ann Clin Lab Sci. 2011 Summer;41(3):282-4.
5
Three missense mutations, including a novel 860C>T transition, and allelic enhancement phenomenon associated with ABO blood subgroups A in Taiwan.三个错义突变,包括一个新的860C>T转换,以及台湾地区与ABO血型A亚群相关的等位基因增强现象。
Transfusion. 2007 Jun;47(6):1014-21. doi: 10.1111/j.1537-2995.2007.01228.x.
6
A clue to the basis of allelic enhancement: occurrence of the Ax subgroup in the offspring of blood group O parents.
Transfus Med. 2005 Oct;15(5):435-42. doi: 10.1111/j.1365-3148.2005.00603.x.
7
The genetic and phenotypic basis of blood group A subtypes in Koreans.韩国人血型A亚型的遗传和表型基础。
Transfus Med. 2005 Aug;15(4):329-34. doi: 10.1111/j.0958-7578.2005.00598.x.
8
Characterization of a novel galactose beta1,3-N-acetylglucosaminyltransferase (beta3Gn-T8): the complex formation of beta3Gn-T2 and beta3Gn-T8 enhances enzymatic activity.一种新型半乳糖β1,3-N-乙酰葡糖胺基转移酶(β3Gn-T8)的特性:β3Gn-T2与β3Gn-T8的复合物形成增强酶活性。
Glycobiology. 2005 Oct;15(10):943-51. doi: 10.1093/glycob/cwi082. Epub 2005 May 25.
9
A novel B(var) allele (547 G>A) demonstrates differential expression depending on the co-inherited ABO allele.一种新的B(var)等位基因(547 G>A)表现出取决于共同遗传的ABO等位基因的差异表达。
Vox Sang. 2004 Oct;87(3):187-9. doi: 10.1111/j.1423-0410.2004.00575.x.
10
Molecular genetic analysis of variant phenotypes of the ABO blood group system.ABO血型系统变异表型的分子遗传学分析
Blood. 1996 Oct 1;88(7):2732-7.