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Haemophilia A: the consequences of de novo mutations. Two case reports.

作者信息

Zarrilli Federica, Coppola Antonio, Schiavulli Michele, Cimino Ernesto, Elce Ausilia, Rescigno Giuseppe, Castaldo Giuseppe, Amato Felice

机构信息

Department of Biosciences and Territory, University of Molise, Isernia, Italy.

CEINGE - Advanced Biotechnologies Scarl, Naples, Italy.

出版信息

Blood Transfus. 2018 Jul;16(4):392-393. doi: 10.2450/2017.0292-16. Epub 2017 Apr 5.

Abstract
摘要

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Severe hemophilia in a girl infant with mosaic Turner syndrome and persistent hyperplastic primary vitreous.
Blood Coagul Fibrinolysis. 2016 Apr;27(3):352-3. doi: 10.1097/MBC.0000000000000424.
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Prenatal diagnosis in haemophilia A: experience of the genetic diagnostic laboratory.
Haemophilia. 2014 Nov;20(6):e384-91. doi: 10.1111/hae.12517. Epub 2014 Sep 6.
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Prenatal diagnosis of haemophilia: our experience of 44 cases.
Clin Chem Lab Med. 2013 Dec;51(12):2233-8. doi: 10.1515/cclm-2013-0205.
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Prenatal diagnosis of haemophilia B: the Italian experience.
Haemophilia. 2013 Nov;19(6):898-903. doi: 10.1111/hae.12219. Epub 2013 Jun 28.
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Prenatal diagnosis of inherited diseases: 20 years' experience of an Italian Regional Reference Centre.
Clin Chem Lab Med. 2013 Dec;51(12):2211-7. doi: 10.1515/cclm-2013-0194.
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Acquired inhibitors of coagulation factors: part I-acquired hemophilia A.
Semin Thromb Hemost. 2012 Jul;38(5):433-46. doi: 10.1055/s-0032-1315757. Epub 2012 Jun 27.
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A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.
J Mol Diagn. 2011 Nov;13(6):648-56. doi: 10.1016/j.jmoldx.2011.06.006. Epub 2011 Aug 30.
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Two de novo factor VIII gene mutations in the family of an isolated severe haemophilia A patient.
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Discordant haemophilia A in male siblings due to a de novo mutation on a familial missense mutant allele.
Haemophilia. 2009 Jul;15(4):971-2. doi: 10.1111/j.1365-2516.2009.02035.x. Epub 2009 Apr 27.
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Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene.
Haemophilia. 2008 Sep;14(5):1094-8. doi: 10.1111/j.1365-2516.2008.01816.x. Epub 2008 Jul 25.

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