A novel c.82insC (p.Tyr28Leufs85X) mutation in the XK gene associated with the McLeod phenotype.

Szczegóły

Tytuł:: A novel c.82insC (p.Tyr28Leufs85X) mutation in the XK gene associated with the McLeod phenotype.
Autorzy:: Horikawa T; Japanese Red Cross Kinki Block Blood Center, Osaka, Japan.
Tanaka M; Japanese Red Cross Kinki Block Blood Center, Osaka, Japan.
Kamada I; Japanese Red Cross Kinki Block Blood Center, Osaka, Japan.
Yoshise Y; Japanese Red Cross Kinki Block Blood Center, Osaka, Japan.
Okuda K; Japanese Red Cross Kinki Block Blood Center, Osaka, Japan.
Tateyama H; Japanese Red Cross Kinki Block Blood Center, Osaka, Japan.
Otani S; Japanese Red Cross Kinki Block Blood Center, Osaka, Japan.
Takihara Y; Japanese Red Cross Kinki Block Blood Center, Osaka, Japan.
Źródło:: Transfusion [Transfusion] 2021 Jan; Vol. 61 (1), pp. E11-E12. Date of Electronic Publication: 2020 Nov 15.
Typ publikacji:: Case Reports; Journal Article
Język:: English
Imprint Name(s):: Original Publication: Arlington, Va. : American Association Of Blood Banks
MeSH Terms:: Amino Acid Transport Systems, Neutral/*immunology
Erythrocytes/*immunology
Kell Blood-Group System/*genetics
Neuroacanthocytosis/*genetics
Asian People/genetics ; Blood Donors ; Erythrocytes/metabolism ; Exons/genetics ; Humans ; Kell Blood-Group System/immunology ; Male ; Membrane Proteins/genetics ; Mutation ; Neuroacanthocytosis/diagnosis ; Neuroacanthocytosis/immunology ; Phenotype ; Sequence Analysis, DNA/methods ; Young Adult
References:: Allen FH, Krabbe SM, Corcorn PA. A new phenotype (McLeod) in the Kell blood-group system. Vox Sang. 1961;6:555-560.
Roulis E, Hyland C, Flower R, Gassner C, Jung HH, Frey BM. Molecular basis and clinical overview of McLeod syndrome compared with other neuroacanthocytosis syndromes a review. JAMA Neurol. 2018;75:1554-1562.
Ho M, Chelly J, Carter N, Danek A, Crocker P, Monaco AP. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell. 1994;77:869-880.
Horikawa T, Kusumi T, Kamada I, et al. A novel c.1664G > T(p.Gly555Val) mutation in the KEL gene encoding the Kmod phenotype. Transfusion. 2019;9:3037-3038.
Substance Nomenclature:: 0 (Amino Acid Transport Systems, Neutral)
0 (Kell Blood-Group System)
0 (Membrane Proteins)
0 (XK protein, human)
SCR Disease Name:: Neuroacanthocytosis, Mcleod Type
Entry Date(s):: Date Created: 20201115 Date Completed: 20210705 Latest Revision: 20221207
Update Code:: 20240105
DOI:: 10.1111/trf.16194
PMID:: 33190237
: Czasopismo naukowe

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