Article
IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia.
Pediatric research - 1 Feb 2008
Gold-von Simson Gabrielle, Leyne Maire, Mull James, Rolnitzky Linda M, Goldberg Judith D, Berlin Dena, Axelrod Felicia B, Slaugenhaupt Susan A
Abstract excerpt
The common familial dysautonomia (FD) mutation results in tissue specific mis-splicing with reduced amount of wild-type (WT) IkappaB kinase associated protein gene (IKBKAP) mRNA and ELP1. ELP1 is a subunit of Elongator, formerly called the IkappaB kinase associated protein (IKAP) protein. We measured IKBKAP mRNA in peripheral blood leukocytes to determine whether FD subjects and carriers have characteristic...
Topics
- Adolescent
- Adult
- Carrier Proteins
- Child
- Dysautonomia, Familial
- Female
- Gene Expression Regulation
- Heterozygote
- Humans
- Leukocytes
- Male