| Tartalom: |
http://real.mtak.hu/15759/ |
| Archívum: |
MTA Könyvtár |
| Gyűjtemény: |
Status = Published
Type = Article
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| Cím: |
A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene
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| Létrehozó: |
Gulácsy, Vera
Soltész, Beáta
Petrescu, Carmen
Bataneant, Mihaela
Gyimesi, Edit
Serban, Margit
Maródi, László
Tóth, Beáta
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| Kiadó: |
Wiley
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| Dátum: |
2015
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| Téma: |
RJ Pediatrics / gyermekgyógyászat
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| Tartalmi leírás: |
Deletion mutations of WAS are relatively rare and the precise localization of large deletions in the genome has rarely been described in previous studies. We report here a five-months-old boy with a large deletion mutation in WAS that completely abolished protein expression. In order to localize the deletion, a 2816 bp-length sequence that spans between exons 9 and 12 was amplified. PCR amplification of the patient's sample revealed a single band of about 1 kb in contrast to the 2816 bp amplicon in the control. Genomic DNA sequencing of the patient revealed a 1595 bp deletion and an adenine insertion (g.5247_6841del1595insA). This large deletion of WAS resulted in partial loss of exon 10 and intron 11, and a complete loss of intron 10 and exon 11. This article is protected by copyright. All rights reserved.
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| Nyelv: |
magyar
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| Típus: |
Article
PeerReviewed
info:eu-repo/semantics/article
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| Formátum: |
text
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| Azonosító: |
Gulácsy, Vera and Soltész, Beáta and Petrescu, Carmen and Bataneant, Mihaela and Gyimesi, Edit and Serban, Margit and Maródi, László and Tóth, Beáta (2015) A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene. European Journal of Haematology, 95 (1). pp. 93-98. ISSN 0902-4441, ESSN: 1600-0609
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| Kapcsolat: |
doi:10.1111/ejh.12424
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