Heterozygous large deletions of Factor 8 gene in females identified by multiplex PCR-LC

Haemophilia A is the most common X-linked recessive bleeding disorder. In 5% of severely affected patients the mutations responsible for the disease are large deletions encompassing from one exon to the complete Factor 8 (F8) gene. Large deletions in a male haemophilic patient are easily detected by...

Full description

Saved in:
Bibliographic Details
Main Author: El Maarri, O. (author)
Other Authors: Pavlova, A. (author), Forster, T. (author), Delev, D. (author), Muller-Reible, C. (author), Oldenburg, J. (author)
Format: article
Published: 2008
Online Access:http://hdl.handle.net/10725/6182
http://dx.doi.org/10.1111/j.1365-2516.2007.01629.x
http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php
http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2516.2007.01629.x/full
Tags: Add Tag
No Tags, Be the first to tag this record!