Journals
Publish with us
Publishing partnerships
About us
Blog
Case Reports in Medicine
Journal overview
For authors
For reviewers
For editors
Table of Contents
Special Issues
Case Reports in Medicine
/
2010
/
Article
/
Fig 5
/
Case Report
Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome
Figure 5
Two heterozygous nonsense mutations in the
CHD1
gene in our patient; p.Q1208X in exon 8 and p.E3668X in exon 50.