تفاصيل الوثيقة

نوع الوثيقة : مقال في مجلة دورية 
عنوان الوثيقة :
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
 
لغة الوثيقة : الانجليزية 
المستخلص : Several cohort studies have investigated the molecular basis of von Willebrand disease (VWD); however, these have mostly focused on European and North American populations. This study aimed to investigate mutation spectrum in 26 index cases (IC) from Turkey diagnosed with all three VWD types, the majority (73%) with parents who were knowingly related. IC were screened for mutations using multiplex ligation-dependent probe amplification and analysis of all von Willebrand factor gene (VWF) exons and exon/intron boundaries. Selected missense mutations were expressed in vitro. Candidate VWF mutations were identified in 25 of 26 IC and included propeptide missense mutations in four IC (two resulting in type 1 and two in recessive 2A), all influencing VWF expression in vitro. Four missense mutations, a nonsense mutation and a small in-frame insertion resulting in type 2A were also identified. Of 15 type 3 VWD IC, 13 were homozygous and two compound heterozygous for 14 candidate mutations predicted to result in lack of expression and two propeptide missense changes. Identification of intronic breakpoints of an exon 17-18 deletion suggested that the mutation resulted from non-homologous end joining. This study provides further insight into the pathogenesis of VWD in a population with a high degree of consanguineous partnerships. 
ردمد : 0000 
اسم الدورية : Thrombosis and haemostasis 
المجلد : 110 
العدد : 2 
سنة النشر : 1434 هـ
2013 م 
نوع المقالة : مقالة علمية 
تاريخ الاضافة على الموقع : Tuesday, April 5, 2016 

الباحثون

اسم الباحث (عربي)اسم الباحث (انجليزي)نوع الباحثالمرتبة العلميةالبريد الالكتروني
Daniel J HampshireHampshire, Daniel J باحث رئيسي  
Adel M AbuzenadahAbuzenadah, Adel M باحث مشارك  
Ashley CartwrightCartwright, Ashley باحث مشارك  
Nawal S Al-ShammariAl-Shammari, Nawal S باحث مشارك  
Rachael E CoyleCoyle, Rachael E باحث مشارك  

الملفات

اسم الملفالنوعالوصف
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