Origin of mutation in sporadic cases of severe haemophilia A in Sweden-Reference-Cited by-同舟云学术

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Origin of mutation in sporadic cases of severe haemophilia A in Sweden

Published:2016-01-20 Issue:1 Volume:90 Page:63-68
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Mårtensson A.¹²,Ivarsson S.¹,Letelier A.¹²,Manderstedt E.³,Halldén C.³,Ljung R.¹²

Affiliation:

1. Department of Clinical Sciences Malmö; Lund University; Malmö Sweden

2. Department of Paediatrics and Malmö Centre for Thrombosis and Haemostasis; Skåne University Hospital, Lund University; Malmö Sweden

3. Biomedicine; Kristianstad University; Kristianstad Sweden

Funder

Lund University and Region Skåne

Vetenskapsrådet

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference25 articles.

1. Haemophilia A: from mutation analysis to new therapies;Graw;Nat Rev Genet,2005

2. Characterization of the human factor VIII gene;Gitschier;Nature,1984

3. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A;Lakich;Nat Genet,1993

4. Factor VIII gene explains all cases of haemophilia A;Naylor;Lancet,1992

5. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions;Naylor;Hum Mol Genet,1993

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1. Identifying hemophilia B carriers: Utility of aPTT, factor IX levels and ratios of factor IX to other Vitamin K dependent factors;Haemophilia;2024-06-24

2. Origin of pathogenic variant and mosaicism in families with a sporadic case of haemophilia B;Haemophilia;2024-04-17

3. De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study;International Journal of Molecular Sciences;2024-02-01

4. Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations;The Application of Clinical Genetics;2023-12

5. Four Decades of Carrier Detection and Prenatal Diagnosis in Hemophilia A: Historical Overview, State of the Art and Future Directions;International Journal of Molecular Sciences;2023-07-24

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