A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies.
作者信息
Marquez Rafael, Hantel Andrew, Lorenz Rachelle, Neistadt Barbara, Wong Jerry, Churpek Jane E, Mardini Nameer Al, Shaukat Ismael, Gurbuxani Sandeep, Miller Jonathan L, Godley Lucy A
机构信息
Department of Medicine, The University of Chicago , Chicago, IL , USA.
出版信息
Leuk Lymphoma. 2014 Dec;55(12):2945-6. doi: 10.3109/10428194.2014.903476. Epub 2014 Apr 22.
Abstract
摘要
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本文引用的文献
1
ANKRD26-related thrombocytopenia and myeloid malignancies.ANKRD26相关的血小板减少症和髓系恶性肿瘤。
Blood. 2013 Sep 12;122(11):1987-9. doi: 10.1182/blood-2013-04-499319.
2
Recognizing familial myeloid leukemia in adults.识别成人家族性髓系白血病。
Ther Adv Hematol. 2013 Aug;4(4):254-69. doi: 10.1177/2040620713487399.
3
A missense mutation in ANKRD26 segregates with thrombocytopenia.ANKRD26基因中的一个错义突变与血小板减少症相关。
Blood. 2013 Jul 18;122(3):461-2. doi: 10.1182/blood-2013-03-489344.
4
Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes.家族性骨髓增生异常综合征/急性白血病倾向综合征患者及其家庭成员的临床检测和管理建议。
Leuk Lymphoma. 2013 Jan;54(1):28-35. doi: 10.3109/10428194.2012.701738. Epub 2012 Jul 9.
5
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.ANKRD26 基因突变导致一种常见的遗传性血小板减少症：21 个家族 78 例患者的分析。
Blood. 2011 Jun 16;117(24):6673-80. doi: 10.1182/blood-2011-02-336537. Epub 2011 Apr 5.
6
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.ANKRD26 基因的 5'UTR 突变导致常染色体显性遗传性血小板减少症，THC2。
Am J Hum Genet. 2011 Jan 7;88(1):115-20. doi: 10.1016/j.ajhg.2010.12.006.
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A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.在常染色体显性血小板减少症中发现的含酰基辅酶A结合结构域蛋白5基因（ACBD5）的一种突变。
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