학술논문
High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard–Soulier syndrome in French patients from the genetic isolate of Reunion Island.
Document Type
Article
Author
Source
Subject
*GENETIC mutation
*BLOOD platelet disorders
*REUNIONS
*ISLANDS
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Language
ISSN
0007-1048
Abstract
High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island Keywords: Bernard-Soulier syndrome; Reunion Island; platelet GPIb ; Leucin-rich repeat domain; GP1BB EN Bernard-Soulier syndrome Reunion Island platelet GPIb Leucin-rich repeat domain GP1BB e67 e71 5 04/30/20 20200501 NES 200501 Congenital defects in the platelet GPIb-IX-V complex result in quantitative deficiencies and cause the Bernard-Soulier syndrome (BSS) bleeding disorder (Nurden & Nurden, [4]). As illustrated in the Western Blot (WB) analysis of one patient (BSS SB 1 sb ), GPIb , GPIb and GPIX subunits, which are probably not correctly associated, were easily degraded leaving only trace amounts or absence of them in platelet lysates (Figure S3). [Extracted from the article]