مورد إلكتروني
Arvelige trombocytsygdomme
| العنوان: | Arvelige trombocytsygdomme |
|---|---|
| عناروين إضافية: | Inherited platelet disorders |
| المصدر: | Brøns , N , Rossing , M & Leinøe , E B 2021 , ' Arvelige trombocytsygdomme ' , Ugeskrift for Laeger , bind 183 , nr. 42 . < |
| بيانات النشر: | 2021-10-18 |
| تفاصيل مُضافة: | Brøns, Nina Rossing, Maria Leinøe, Eva Birgitte |
| نوع الوثيقة: | Electronic Resource |
| 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. |
| مصطلحات الفهرس: | Blood Platelet Disorders/diagnosis, Blood Platelets, Humans, Whole Genome Sequencing, article |
| URL: | |
| الإتاحة: | Open access content. Open access content info:eu-repo/semantics/openAccess |
| ملاحظة: | application/pdf Danish |
| أرقام أخرى: | DAV oai:pure.atira.dk:publications/5a26edf2-3ac5-4228-a32c-aa575c6c4684 1372659549 |
| المصدر المساهم: | UNIV OF COPENHAGEN From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.on1372659549 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |