A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report-Reference-Cited by-同舟云学术

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A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report

Published:2018-02-27 Issue:4 Volume:6 Page:686-689
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Alsahafi Imtinan K.¹^ORCID,Al-Harbi Ibrahim²,Aldor Shahad M.¹,Albarakati Bilqis A.¹,Alahmadi Ghaida B.¹

Affiliation:

1. Faculty of Medicine; Umm Al-Qurra University; Mecca Saudi Arabia

2. Department of Pediatrics; Faculty of Medicine; Umm Al-Qurra University; Mecca Saudi Arabia

Publisher

Wiley

Subject

General Medicine

Reference20 articles.

1. Bernard-Soulier syndrome due to GPIX W127X mutation in japan is frequently misdiagnosed as idiopathic thrombocytopenic purpura;Kunishima;Int. J. Hematol.,2006

2. Bernard Soulier Syndrome: a rare bleeding disorder with a wide range of genetic defects;Hadjkacem;J. Coagul. Disord.,2010

3. Inherited giant platelet disorders classification and literature review;Mhawech;Am. J. Clin. Pathol.,2000

4. Spectrum of the mutations in Bernard-Soulier syndrome;Savoia;Hum. Mutat.,2014

5. Bernard-Soulier syndrome: an inherited platelet disorder;Pham;Arch. Pathol. Lab. Med.,2007

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