A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease

31 August 2000

journal article
case report
Published by Springer Nature in European Journal of Human Genetics

Vol. 8 (9) , 697-703
https://doi.org/10.1038/sj.ejhg.5200523

Abstract

The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.

Keywords

EJHG
HUMAN GENETICS
DNA DIAGNOSIS
CYTOGENETICS
CLINICAL GENETICS
MOLECULAR GENETICS
LINKAGE STUDIES