Multiplex ligation-dependent probe amplification as first mutation screening for large deletions and duplications in haemophilia-Reference-Cited by-同舟云学术

Multiplex ligation-dependent probe amplification as first mutation screening for large deletions and duplications in haemophilia

Published:2017-02-15 Issue:2 Volume:23 Page:e124-e132
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Belvini D.¹,Salviato R.¹,Radossi P.¹,Tagariello G.¹

Affiliation:

1. Transfusion Service; Haemophilia Centre and Haematology; Castelfranco Veneto Hospital; Castelfranco Veneto Italy

Publisher

Wiley

Subject

Genetics(clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.13143/fullpdf

Reference31 articles.

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2. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A;Bagnall;Blood,2002

3. Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A;Murru;Genomics,1990

4. Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis;Tagariello;Haematologica,2000

5. Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis;Williams;Thromb Haemost,1998

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