Compound heterozygosity in gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency.
作者信息
Bagla Shruti, Bhambhani Kanta, Gadgeel Manisha, Buck Steven, Jin Jian-Ping, Ravindranath Yaddanapudi
机构信息
Division of Hematology/Oncology, Department of Pediatrics, Wayne State University - School of Medicine, and Children's Hospital of Michigan.
Department of Physiology, Wayne State University, School of Medicine, Detroit, MI, USA.
出版信息
Haematologica. 2019 Sep;104(9):e428-e431. doi: 10.3324/haematol.2018.214692. Epub 2019 Apr 4.
Abstract
摘要
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Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.解决丙酮酸激酶缺乏症的诊断差距：丙酮酸激酶缺乏症诊断的共识建议。
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Six previously undescribed pyruvate kinase mutations causing enzyme deficiency.六个先前未被描述的导致酶缺乏的丙酮酸激酶突变。
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