Germlinede novomutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease-Reference-Cited by-同舟云学术

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Germlinede novomutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease

Published:2014-04-08 Issue:4 Volume:20 Page:e311-e317
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Ahmad F.¹²,Oyen F.³,Jan R.¹,Budde U.⁴,Schneppenheim R.³,Saxena R.¹

Affiliation:

1. Department of Haematology; All India Institute of Medical Sciences (AIIMS); New Delhi India

2. Center for Translational Medicine; School of Medicine Temple University; Philadelphia PA USA

3. Department of Pediatric Haematology Oncology; University Medical Centre Hamburg Eppendorf; Hamburg Germany

4. Hämostaseology; Medilys Laborgesellschaft mbH; Hamburg Germany

Funder

Indian Council of Medical Research

Department of Science and Technology, Ministry of Science and Technology

Prof. Gunther Landbeck fellowship

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.12441/fullpdf

Reference27 articles.

1. Impact, diagnosis and treatment of von Willebrand disease;Sadler;Thromb Haemost,2000

2. Diagnosis of von Willebrand disease subtypes: implications for treatment;Budde;Haemophilia,2008

3. von Willebrand disease: still an intriguing disorder in the era of molecular medicine;Rodeghiero;Haemophilia,2002

4. Construction of cDNA coding for human von Willebrand factor using antibody probes for colony-screening and mapping of the chromosomal gene;Verweij;Nucleic Acids Res,1985

5. A polymorphism of the human von Willebrand factor (vWf) gene with BamHI;Nishino;Nucleic Acids Res,1986

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Origin and timing of de novo variants implicated in type 2 von Willebrand disease;Journal of Cellular and Molecular Medicine;2022-10-13

2. Phenotypic Parameters in Genotypically Selected Type 2B von Willebrand Disease Patients: A Large, Single-Center Experience Including a New Novel Mutation;Seminars in Thrombosis and Hemostasis;2016-12-15

3. De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD;Thrombosis Journal;2016-10

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