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PubMed (GeneRIF) for id: 22

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Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes.
Dolatshad H, Pellagatti A, Liberante FG, Llorian M, Repapi E, Steeples V, Roy S, Scifo L, Armstrong RN, Shaw J, Yip BH, Killick S, Kušec R, Taylor S, Mills KI, Savage KI, Smith CW, Boultwood J. Dolatshad H, et al. Leukemia. 2016 Dec;30(12):2322-2331. doi: 10.1038/leu.2016.149. Epub 2016 May 23. Leukemia. 2016. PMID: 27211273 Free PMC article.
Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.
Protasova MS, Grigorenko AP, Tyazhelova TV, Andreeva TV, Reshetov DA, Gusev FE, Laptenko AE, Kuznetsova IL, Goltsov AY, Klyushnikov SA, Illarioshkin SN, Rogaev EI. Protasova MS, et al. Eur J Hum Genet. 2016 Apr;24(4):550-5. doi: 10.1038/ejhg.2015.139. Epub 2015 Aug 5. Eur J Hum Genet. 2016. PMID: 26242992 Free PMC article.
The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts.
Nikpour M, Scharenberg C, Liu A, Conte S, Karimi M, Mortera-Blanco T, Giai V, Fernandez-Mercado M, Papaemmanuil E, Högstrand K, Jansson M, Vedin I, Wainscoat JS, Campbell P, Cazzola M, Boultwood J, Grandien A, Hellström-Lindberg E. Nikpour M, et al. Leukemia. 2013 Apr;27(4):889-896. doi: 10.1038/leu.2012.298. Epub 2012 Oct 16. Leukemia. 2013. PMID: 23070040 Free PMC article.
13 results