دورية أكاديمية
[Inherited platelet disorders].
| العنوان: | [Inherited platelet disorders]. |
|---|---|
| المؤلفون: | Brøns N; nanna.broens@regionh.dk., Rossing M, Leinøe EB |
| المصدر: | Ugeskrift for laeger [Ugeskr Laeger] 2021 Oct 18; Vol. 183 (42). |
| نوع المنشور: | Journal Article; Review |
| اللغة: | Danish |
| بيانات الدورية: | Publisher: Den Alm Danske Laegerforening Country of Publication: Denmark NLM ID: 0141730 Publication Model: Print Cited Medium: Internet ISSN: 1603-6824 (Electronic) Linking ISSN: 00415782 NLM ISO Abbreviation: Ugeskr Laeger Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Copenhagen : Den Alm Danske Laegerforening |
| مواضيع طبية MeSH: | Blood Platelet Disorders*/diagnosis , Blood Platelet Disorders*/genetics , Blood Platelets*, Humans ; Whole Genome Sequencing |
| مستخلص: | Inherited platelet disorders (IPD) cover a heterogenous group of disorders with large differences in severity, disease mechanisms and prevalence. Pathogenic variants in more than 60 different genes, associated with megakaryocyte or platelet number and/or function, are causal of IPD. Due to disease heterogeneity IPDs are often difficult to diagnose, problematic to manage and underestimated. In the past decade, genetic diagnostics using whole-genome sequencing has revolutionised the field by identifying numerous novel genes involved in IPD aetiology as described in this review. |
| تواريخ الأحداث: | Date Created: 20211028 Date Completed: 20211208 Latest Revision: 20230809 |
| رمز التحديث: | 20240628 |
| PMID: | 34709163 |
| قاعدة البيانات: | MEDLINE |
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