De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism

The intron 22 inversion represents the most prevalentfactor VIII gene defect in severe hemophilia A, accounting for about 40% of all mutations. It is hypothesized that the inversion mutations occur almost exclusively in germ cells during meiotic cell division by intrachromosomal recombination betwee...

Full description

Saved in:
Bibliographic Details
Main Author: El Maarri, Osman (author)
Other Authors: Oldenburg, Johannes (author), Rost, Simone (author), Leuer, Marco (author), Olek, Klaus (author), Muller, Clemen R. (author), Schwaab, Rainer (author)
Format: article
Published: 2000
Online Access:http://hdl.handle.net/10725/6163
http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php
http://www.bloodjournal.org/content/96/8/2905.short?sso-checked=true
Tags: Add Tag
No Tags, Be the first to tag this record!