A novel c.1664G?>?T(p.Gly555Val) mutation in the KEL KEL gene encoding the K mod mod phenotype

Horikawa Toshihiro; Kusumi Tomoko; Kamada Ikuko; Okuda Kumiko; Tateyama Hidemi; Kimura Takafumi; Takihara Yoshihiro; Tani Yoshihiko; Tanaka Mitsunobu

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A novel c.1664G?>?T(p.Gly555Val) mutation in the KEL KEL gene encoding the K mod mod phenotype

机译：在编码K mod Mod表型的Kel Kel基因中的一种新的C.1664g？> t（p.gly555Val）突变

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来源
《Transfusion: The Journal of the American Association of Blood Banks》 |2019年第9期|共2页
作者
Horikawa Toshihiro; Kusumi Tomoko; Kamada Ikuko; Okuda Kumiko; Tateyama Hidemi; Kimura Takafumi; Takihara Yoshihiro; Tani Yoshihiko; Tanaka Mitsunobu;
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作者单位

Japanese Red Cross Kinki Block Blood CenterOsaka Japan;

Japanese Red Cross Kinki Block Blood CenterOsaka Japan;

Japanese Red Cross Kinki Block Blood CenterOsaka Japan;

Japanese Red Cross Kinki Block Blood CenterOsaka Japan;

Japanese Red Cross Kinki Block Blood CenterOsaka Japan;

Japanese Red Cross Kinki Block Blood CenterOsaka Japan;

Japanese Red Cross Kinki Block Blood CenterOsaka Japan;

Japanese Red Cross Kinki Block Blood CenterOsaka Japan;

Japanese Red Cross Kinki Block Blood CenterOsaka Japan;

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正文语种 eng
中图分类治疗学;
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1. A novel c.1664G?>?T(p.Gly555Val) mutation in the KEL KEL gene encoding the K mod mod phenotype [J] . Horikawa Toshihiro, Kusumi Tomoko, Kamada Ikuko, Transfusion: The Journal of the American Association of Blood Banks . 2019,第9期

机译：在编码K mod Mod表型的Kel Kel基因中的一种新的C.1664g？> t（p.gly555Val）突变
2. Genetic and functional analyses describe a novel 730delG mutation in the KEL gene causing K0 phenotype in a Taiwanese blood donor. [J] . Yang MH, Li L, Kuo YF, Transfusion medicine . 2011,第5期

机译：遗传和功能分析描述了KEL基因中的一个新的730delG突变，导致台湾献血者的K0表型。
3. Griffith-Kelly-Sherman Correlation Inequalities for Generalized Potts Model [J] . Ganikhodjaev N, Razak FA Mathematical physics, analysis, and geometry . 2010,第1期

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4. Generation of terahertz signal by photomixing Kelly sidebands of mode-locking fiber laser [C] . Weiqian Zhao, Chun Yang, Mingya Shen, Conference on Nonlinear Optics and Applications . 2021

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5. Dancing Race and Masculinity Across Midcentury Screens: The Nicholas Brothers, Gene Kelly, and Elvis Presley on American Film and TV. [D] . Krayenbuhl, Pamela Grenelle. 2017

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6. Interaction between Mutations in the Suppressor of Hairy Wing and Modifier of Mdg4 Genes of Drosophila Melanogaster Affecting the Phenotype of Gypsy-Induced Mutations [O] . P. Georgiev, M. Kozycina 1996

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7. Rare but Relevant Kidney DisordersSeizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A 106: 5842–5847, 2009Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med 360: 1960–1970, 2009A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J Clin Invest 119: 936–942, 2009Idiopathic retroperitoneal fibrosis: Prospective evaluation of incidence and clinicoradiologic presentation. Medicine 88: 193–201, 2009Retroperitoneal fibrosis: The clinical, laboratory, and radiographic presentation. Medicine 88: 202–207, 2009Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med 361: 345–357, 2009 [O] . Jean-Pierre Grünfeld, UI Scholl, D Bockenhauer, 2009

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A novel c.1664G?>?T(p.Gly555Val) mutation in the KEL KEL gene encoding the K mod mod phenotype

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