Varaico: Literature-Extracted Genetic Variants

Gene:FUT1
Variant:p.R220C
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FUT1

NM_001384359.1:p.R220C

Associated Papers

Genetic analysis and protein modeling evaluation of a novel FUT1 variant c.683T>C (p.Met228Thr) in a Chinese individual with para-Bombay phenotype.

He Y et al.

Transfusion, 2025

Identification of two novel variants, c.-35A>T and c.[-35A>T, 725T>G], in the FUT1 gene in a patient exhibiting the para-Bombay phenotype.

Intharanut K et al.

Transfusion, 2024

A Pedigree Investigation of H-antigen Deletion Caused by Mutation of 658 C to T in the FUT1 Gene.

Li C et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024

Identification of a novel FUT1 allele with a nucleotide deletion (c.500del) responsible for para-Bombay phenotype.

Hou J

Transfusion, 2023

Analysis of the molecular mechanism and pedigree investigation of para-Bombay phenotype caused by combined mutations at position h649 and h768 of FUT1 gene.

Sun X et al.

Blood Transfusion = Trasfusione Del Sangue, 2022

Two novel alleles on Fucosyltransferase 2 from northern Thai para-Bombay family and computational prediction on mutation effect.

Anukul N et al.

Transfusion, 2021

Homozygous FUT1 Mutations Causing a Para-Bombay Phenotype: a Pedigree Investigation Report.

He Y et al.

Clinical Laboratory, 2021

[Serological Identification and FUT1 Gene Mutation Analysis of 8 Individuals with Para-Bombay Phenotypes in Guangxi].

Liu JL et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2021

A Para-Bombay Blood Group Case Associated with a Novel FUT1 Mutation c.361G>A.

Lei H et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2021

Identification of a Case with Heterozygous Mutations in the FUT1 Gene Leading to a Para-Bombay Phenotype.

Lin CL et al.

Clinical Laboratory, 2019

A Very Rare Case with Particular H-deficient Phenotypes.

Song M et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2018

Identification of a novel FUT1 allele with two mutations in a Chinese para-Bombay individual.

Wang L et al.

Transfusion, 2017

[Study of a case with homozygous 35C>T and 658C>T mutations of FUT1 gene leading to a para-Bombay phenotype].

Lin F et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015

Genomic analysis of para-Bombay individuals in south-eastern China: the possibility of linkage and disequilibrium between FUT1 and FUT2.

Zhang A et al.

Blood Transfusion = Trasfusione Del Sangue, 2015

Two Novel α 1,2-Fucosyltransferase Alleles in an H-Deficient Phenotype Individual.

He Z et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2014

The summary of FUT1 and FUT2 genotyping analysis in Chinese para-Bombay individuals including additional nine probands from Guangzhou in China.

Luo G et al.

Transfusion, 2013

[Mutational analysis for FUT1 gene in two cases with para-Bombay blood type].

Xu DY et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2011

Molecular genetic analysis for the para-Bombay blood group revealing two novel alleles in the FUT1 gene.

Cai XH et al.

Blood Transfusion = Trasfusione Del Sangue, 2011

H blood-group deficiency has a high frequency in Lahu Chinese.

Cai XH et al.

Transfusion Medicine (oxford, England), 2011

[Molecular genetic basis for para-Bombay phenotypes in two cases].

He YM et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2007

Two prevalent h alleles in para-Bombay haplotypes among 250,000 Taiwanese.

Chen DP et al.

Annals of Clinical and Laboratory Science, 2004

The polymorphisms of fucosyltransferases.

Koda Y et al.

Legal Medicine (tokyo, Japan), 2001

Novel mutations, including a novel G659A missense mutation, of the FUT1 gene are responsible for the para-Bombay phenotype.

Sun CF et al.

Annals of Clinical and Laboratory Science, 2000

Conserved structural features in eukaryotic and prokaryotic fucosyltransferases.

Breton C et al.

Glycobiology, 1998

Point mutations and deletion responsible for the Bombay H null and the Reunion H weak blood groups.

Fernandez-Mateos P et al.

Vox Sanguinis, 1998

Genotyping of the rare Para-Bombay blood group in southern Thailand.

Rattanapan Y et al.

Hematology, Transfusion and Cell Therapy, 0

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