Yayınlanmış 1 Ocak 2021
| Sürüm v1
Dergi makalesi
Açık
Identification of novel TUBB1 variants in patients with macrothrombocytopenia
Oluşturanlar
- 1. Gebze Tech Univ, Dept Mol Biol & Genet, Fac Sci, Kocaeli, Turkey
- 2. Dr Behcet Uz Childrens Hosp, Dept Pediat Hematol, Izmir, Turkey
- 3. TOBB ETU Univ, Dept Pediat, Fac Med, Ankara, Turkey
- 4. Istanbul Okan Univ, Vocat Sch Hlth Serv, Med Lab, Istanbul, Turkey
Açıklama
Background/aim: Macrothrombocytopenia is an autosomal-dominant disorder characterized by increased platelet size and a decreased number of circulating platelets. The membrane skeleton and the link between actin filaments of the skeleton and microtubules, which consist of alpha and beta tubulin [including the tubulin beta-1 chain (TUBB1)] heterodimers, are important for normal platelet morphology, and defects in these systems are associated with macrothrombocytopenia.
Dosyalar
bib-05c874ea-aab8-439a-9f1b-8a53840d0e8f.txt
Dosyalar
(238 Bytes)
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md5:951d70ee67e9d0ea1cb3887cd2fb1c85
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238 Bytes | Ön İzleme İndir |