Use of two complementary new molecular techniques, next-generation sequencing and droplet digital PCR, for diagnosis of an F8 gene deletion and subsequent carrier analysis in a family with haemophilia A: A Case Report-Reference-Cited by-同舟云学术

Use of two complementary new molecular techniques, next-generation sequencing and droplet digital PCR, for diagnosis of an F8 gene deletion and subsequent carrier analysis in a family with haemophilia A: A Case Report

Published:2018-10-09 Issue:6 Volume:24 Page:e425-e427
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Gangodkar Priyanka¹²,Ranade Shatakshi¹²,Anand Siddharth¹²^ORCID,Bapat Ashwini¹²,Khatod Kavita¹,Shah Parth³,Agarwal Meenal¹²,Phadke Nikhil¹²

Affiliation:

1. GenePath Dx; Causeway Healthcare Private Limited, Phadke Hospital; Pune India

2. I-SHARE Foundation; Pune India

3. Supratech Micropath Laboratories; Ahmedabad India

Publisher

Wiley

Subject

Genetics(clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.13613/fullpdf

Reference7 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. Haemophilia A and haemophilia B: molecular insights;Bowen;J Clin Pathol: Mol Pathology,2002

4. Molecular genetics of hemophilia A: Clinical perspectives;Tantawy;Egyptian Journal of Medical Human Genetics,2010

5. Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns;Coughlin;Genome Med,2012

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