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Updated: Jun 24, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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大亨:丹麦一项全国性的研究,通过对疑似遗传性贫血患者的真实数据来确保质量保证

Andreas Glenthøj1,2, Andreas Ørslev Rasmussen3, Selma Kofoed Bendtsen4

  • 1Danish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen University Hospital, Rigshospitalet Blegdamsvej 9, Copenhagen,, DK-2100, Denmark. andreas.glenthoej@regionh.dk.

Orphanet journal of rare diseases
|July 31, 2024
PubMed
概括

正确诊断遗传性贫血对于有效治疗至关重要. 丹麦的DAHEAN研究改善了这些遗传性血液疾病的诊断能力,从而改善了患者管理.

关键词:
酶类病变 酶类病变 酶类病变血球蛋白病变 血球蛋白病变遗传性贫血症是一种遗传性贫血症.膜病变是一种膜病变.精确诊断技术的精确诊断整个基因组的测序.

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