The novel RHD c.325A>G single nucleotide variation found in Argentineans leads to a partial D phenotype

被引：0

作者：

Mufarrege, Nicolas ^{[1
]}

Trucco Boggione, Carolina ^{[1
]}

Puppo, Monica ^{[2
]}

Ensinck, Alejandra ^{[1
]}

Principi, Cintia ^{[1
]}

Brajovich, Melina Lujan ^{[1
]}

Mattaloni, Stella ^{[1
]}

Biondi, Claudia ^{[1
]}

Kuperman, Silvina ^{[2
]}

Cotorruelo, Carlos ^{[1
]}

机构：

[1] Univ Nacl Rosario, Lab Inmunohematol & Inmunogenet, IDICER CONICET, Fac Ciencias Bioquim & Farmaceut, Suipacha 531, RA-2000 Rosario, Argentina

[2] Hosp Pediat Prof Dr Juan P Garrahan, Ctr Reg Hemoterapia, Buenos Aires, DF, Argentina

来源：

TRANSFUSION | 2020年 / 60卷 / 11期

关键词：

D O I：

10.1111/trf.16050

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：E43 / E44

页数：2

共 18 条

[1] The synonymous nucleotide substitution RHD L1056C>G alters mRNA splicing associated with serologically weak D phenotype
Chun, Sejong
Yun, Jae Won
Park, Geon
Cho, Duck
JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2018, 32 (04)
[2] A novel RHD allele, RHD c.56C>G (p.Thr19Arg), with Del phenotype identified in a Chinese family
Jiang, Zihan
Duan, Honglei
Ding, Hu
Lu, Le
Shi, Xiaohong
Li, Jie
TRANSFUSION, 2022, 62 (12) : E73 - E75
[3] A Weak D Phenotype Discovered in Nine Patients in Western Canada due to a Nucleotide 1187C>G (Pro396Arg) Change in RHD
Westhoff, C. M.
Hannon, J.
Clarke, G.
Cote, J. M.
Goldman, M.
Lane, D.
Vege, S.
Lomas-Francis, C.
Ochoa, G.
TRANSFUSION, 2014, 54 : 30A - 30A
[4] One novel single nucleotide polymorphism c.424A>G on A1.02 allele in ABO glycosyltransferases leads to A weak phenotype
Lei, Hang
Zhang, Hui
Wang, Yuqing
Li, Jiaming
Wang, Xuefeng
Lou, Can
Cai, Xiaohong
JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2024, 123 (11) : 1182 - 1185
[5] Effect of carboxylesterase 1 c.428G>A single nucleotide variation on the pharmacokinetics of quinapril and enalapril
Tarkiainen, E. Katriina
Tornio, Aleksi
Holmberg, Mikko T.
Launiainen, Terhi
Neuvonen, Pertti J.
Backman, Janne T.
Niemi, Mikko
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY, 2015, 80 (05) : 1131 - 1138
[6] THREE NEW RHD GENOTYPES FOUND IN CZECH POPULATION IN 2009-SINGLE POINT MUTATIONS IN EXON 1|48G>C| AND EXON 5|787G>A| AND HYBRID GENE RHD(1-8)-CE(9)-D(10)
Pisacka, M.
VOX SANGUINIS, 2010, 99 : 83 - 83
[7] CARBOXYLESTERASE 1 C.428G>A SINGLE NUCLEOTIDE VARIATION REDUCES HYDROLYSIS OF CLOPIDOGREL AND ENALAPRIL, BUT NOT THAT OF QUINAPRIL
Tarkiainen, E. K.
Holmberg, M. T.
Tornio, A.
Neuvonen, M.
Launiainen, T.
Neuvonen, P. J.
Backman, J. T.
Niemi, M.
CLINICAL THERAPEUTICS, 2015, 37 (08) : E3 - E3
[8] The novel missense mutation AQP1*c.517G>C leads to the Coltonnull phenotype in a patient with an alloanti-Co3
Bugert, P.
Weichmann, J.
Rink, G.
Rothenberger, S.
Stuertzel, A.
Richter, E.
Scharberg, E. A.
TRANSFUSION MEDICINE AND HEMOTHERAPY, 2017, 44 : 53 - 53
[9] RHCE*ceAG (254C>G, Ala85Gly) is prevalent in blacks, encodes a partial ce-phenotype, and is associated with discordant RHD zygosity
Westhoff, Connie M.
Vege, Sunitha
Hipsky, Christine Halter
Horn, Trina
Hue-Roye, Kim
Keller, Jessica
Velliquette, Randall
Lomas-Francis, Christine
Chou, Stella T.
Reid, Marion E.
TRANSFUSION, 2015, 55 (11) : 2624 - 2632
[10] Identification of a novel KLF1 gene promoter variation (c.-251C > G) in a Thai blood donor with In(Lu) phenotype
Intharanut, Kamphon
Nathalang, Oytip
TRANSFUSION, 2023, 63 (06) : E32 - E33

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The novel RHD c.325A&gt;G single nucleotide variation found in Argentineans leads to a partial D phenotype

The novel RHD c.325A>G single nucleotide variation found in Argentineans leads to a partial D phenotype