Novel characterization of a breakpoint in F8

Haemophilia A is an X-linked bleeding disorder caused by heterogeneous mutations in the F8 gene. Two inversion hotspots in intron 22 and intron 1, as well as point mutations, small insertions and deletions in the F8 gene account for causal mutations leading to severe haemophilia A. Rarely, novel mol...

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Bibliographic Details
Main Author: El-Maarri, O. (author)
Other Authors: Williams, M.D. (author), Pezeshkpoor, B. (author), Theophilus, B.D.M. (author), Guillatt, A.M. (author), Oldenburg, J. (author)
Format: article
Published: 2015
Online Access:http://hdl.handle.net/10725/6656
http://dx.doi.org/10.1111/hae.12606
http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php
http://onlinelibrary.wiley.com/doi/10.1111/hae.12606/full
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