FUT1 mutations responsible for the H-deficient phenotype in the Polish population, including the first example of an abolished start codon.
作者信息
Michalewska Bogumila, Olsson Martin L, Naremska Grazyna, Walenciak Jolanta, Hult Annika K, Ozog Agnieszka, Guz Katarzyna, Brojer Ewa, Storry Jill R
机构信息
Institute of Haematology and Transfusion Medicine, Warsaw, Poland.
Department of Laboratory Medicine, Division of Haematology and Transfusion Medicine, Lund University, Lund, Sweden.
出版信息
Blood Transfus. 2018 Jan;16(1):101-104. doi: 10.2450/2016.0135-16. Epub 2016 Nov 21.
Abstract
摘要
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本文引用的文献
1
Molecular genetic analysis of ABO blood group variations reveals 29 novel ABO subgroup alleles.
Transfusion. 2013 Nov;53(11 Suppl 2):2910-6. doi: 10.1111/trf.12168. Epub 2013 Mar 22.
2
Weak A phenotypes associated with novel ABO alleles carrying the A2-related 1061C deletion and various missense substitutions.
Transfusion. 2010 Jul;50(7):1471-86. doi: 10.1111/j.1537-2995.2010.02670.x. Epub 2010 May 7.
3
Many genetically defined ABO subgroups exhibit characteristic flow cytometric patterns.
Transfusion. 2010 Feb;50(2):308-23. doi: 10.1111/j.1537-2995.2009.02398.x. Epub 2009 Oct 5.
4
An extensive polymerase chain reaction-allele-specific polymorphism strategy for clinical ABO blood group genotyping that avoids potential errors caused by null, subgroup, and hybrid alleles.
Transfusion. 2007 Nov;47(11):2110-25. doi: 10.1111/j.1537-2995.2007.01436.x.
5
Bacterial glycosidases for the production of universal red blood cells.
Nat Biotechnol. 2007 Apr;25(4):454-64. doi: 10.1038/nbt1298. Epub 2007 Apr 1.
6
Identification of six new alleles at the FUT1 and FUT2 loci in ethnically diverse individuals with Bombay and Para-Bombay phenotypes.
Transfusion. 2006 Dec;46(12):2149-55. doi: 10.1111/j.1537-2995.2006.01045.x.
7
A weak blood group A phenotype caused by a translation-initiator mutation in the ABO gene.
Transfusion. 2006 Mar;46(3):434-40. doi: 10.1111/j.1537-2995.2006.00740.x.
8
[Analysis on FUT1 and FUT2 gene of 10 para-Bombay individuals in China].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Oct;21(5):417-21.
9
Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database.
Hum Mutat. 2004 Jan;23(1):8-16. doi: 10.1002/humu.10296.
10
Polymorphism and recombination events at the ABO locus: a major challenge for genomic ABO blood grouping strategies.
Transfus Med. 2001 Aug;11(4):295-313. doi: 10.1046/j.1365-3148.2001.00320.x.
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