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.

Subjects

Subjects :

Female
Genetic Carrier Screening
Hemophilia A genetics
High-Throughput Nucleotide Sequencing
Humans
Middle Aged
Pedigree
Polymerase Chain Reaction
Factor VIII genetics
Hemophilia A diagnosis
Pathology, Molecular methods
Sequence Deletion genetics

Details

Language :

English

ISSN :

1365-2516

Volume :

24

Issue :

6

Database :

MEDLINE

Journal :

Haemophilia : the official journal of the World Federation of Hemophilia

Publication Type :

Report

Accession number :

30299569

Full Text :

https://doi.org/10.1111/hae.13613