التفاصيل البيبلوغرافية
| العنوان: |
A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia |
| المؤلفون: |
Despotović M, Pereza N, Peterlin B, Ostojić S, Golob B, Maver A, Roganović J |
| المصدر: |
Balkan Journal of Medical Genetics, Vol 25, Iss 1, Pp 85-88 (2023) |
| بيانات النشر: |
Sciendo, 2023. |
| سنة النشر: |
2023 |
| المجموعة: |
LCC:Genetics |
| مصطلحات موضوعية: |
blood platelet disorders, genetic testing, thrombocytopenia, Genetics, QH426-470 |
| الوصف: |
Heterozygous pathogenic and likely pathogenic sequence variants in the RUNX1 (Runt-related Transcription Factor 1) gene are a common genetic cause of decreased platelet count and/or platelet dysfunction and an increased risk of developing myelodysplasia and acute myeloid leukemia. The majority of causative variants are substitutions, which rarely occur de novo. The aim of this case report is to present a patient with congenital thrombocytopenia caused by a deletion variant in exon 9 in the RUNX1 gene. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
1311-0160 |
| Relation: |
https://doaj.org/toc/1311-0160 |
| DOI: |
10.2478/bjmg-2022-0009 |
| URL الوصول: |
https://doaj.org/article/cdd72d9999014fe88189ecc459fca314 |
| رقم الانضمام: |
edsdoj.72d9999014fe88189ecc459fca314 |
| قاعدة البيانات: |
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