Journal of Blood Disorders & Transfusion

Imad Abushkedim

Publications

• Research Article
  Identification of two Novel Mutations in the Factor X Gene; A 5' Donor Splice-Site Mutation (IVS1+1G?T) and a Missense Mutation (Asp413Asn G>T) in Unrelated Palestinian Factor X Deficient Patients
  Author(s): Riham Smoom, Imad Abushkedim and Hisham DarwishRiham Smoom, Imad Abushkedim and Hisham Darwish
  
  Factor X deficiency is a rare autosomal disease with an estimated prevalence 1: 1,000,000. It is characterized by a reduction in factor X, an essential component of the prothrombinase complex responsible for converting prothrombin to thrombin. The aim of the study was to identify the molecular defects in the factor X gene in Palestinian factor X deficient patients. Nine unrelated Palestinian patients were identified by thrombin time [PT], activated partial thromboplastin time [APTT] and plasma factor X levels. All exons including exon/ intron border and promoter regions were PCR amplified, purified, sequenced and compared to the normal factor X gene. A novel splicing junction mutation IVS1+1G?T was identified in two patients resulting in a major distortion of the protein structure and function. A second novel missense mutation Asp413Asn G>T that apparently distorts the protein stru.. View More»
  DOI: 10.4172/2155-9864.1000292

  Abstract PDF