Large deletions identified in patients with von Willebrand disease using multiple ligation-dependent probe amplification
نویسندگان
چکیده
منابع مشابه
detection of partial deletions of y-chromosome azfc in infertile men using the multiplex ligation-dependent probe amplification assay
background: in recent studies, partial deletions of the azoospermia factor c region (azfc) on the y-chromosome have been detected in males with infertility problems. however, there has been a lot of debate about their significance. in order to study such deletions, a simple but accurate method for their detection was applied in this study. methods: we present data obtained from the multiplex li...
متن کاملMultiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients.
Mutations in the methyl-CpG-binding protein-2 (MECP2) gene on Xq28 have been found to be a cause of Rett syndrome (RS). In a previous mutation screening, we found MECP2 mutations in 81% of Swedish classical Rett women. In this study, we have analyzed 22 patients for MECP2 deletions using multiplex-ligation-dependent probe amplification (MLPA). Clinically, 11 of the patients who were classical R...
متن کاملMultiple Sclerosis Diagnosed in a Woman With Von-Willebrand Disease: A Case Report
Background: Von-Willebrand Disease (VWD) is the most common inherited bleeding disorder with an autosomal inheritance pattern. Multiple Sclerosis (MS) is a neurological disease, causing neurodegeneration and demyelination of the central nervous system through autoimmune mechanisms, and is a major cause of non-traumatic disabilities in youths. Some studies have shown the higher plasma activity o...
متن کاملDetecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).
OBJECTIVES To evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in comparison with the traditional multiplex PCR assay in detection of exon deletions and duplications of the DMD gene. DESIGN AND METHODS The sensitivity and accuracy of MLPA were assessed and compared with the multiplex PCR in a total of 63 subjects including 43 subjects with Duchenne mu...
متن کاملApplications of multiplex ligation-dependent probe amplification (MLPA) method in diagnosis of cancer and genetic disorders
Introduction: Lots of human diseases and syndromes result from partial or complete gene deletions and duplications or changes of certain specific chromosomal sequences. Many various methods are used to study the chromosomal aberrations including Comparative Genomic Hybridization (CGH), Fluorescent in Situ Hybridization (FISH), Southern blots, Multiplex Amplifiable Probe Hybridisation (MAP...
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ژورنال
عنوان ژورنال: Journal of Thrombosis and Haemostasis
سال: 2011
ISSN: 1538-7933
DOI: 10.1111/j.1538-7836.2011.04260.x