Article
Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings.
The Journal of allergy and clinical immunology - 1 Dec 2016
Trück Johannes, Kelly Dominic F, Taylor John M, Kienzler Anne Kathrin, Lester Tracy, Seller Anneke, Pollard Andrew J, Patel Smita Y
Abstract excerpt
No abstract is available from the source.
Topics
- Carbon-Nitrogen Ligases
- Child
- Child, Preschool
- Female
- Humans
- Male
- Mutation
- Phenotype
- Siblings
- Exome Sequencing