A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). [electronic resource]
Producer: 20010118Description: 1555-62 p. digitalISSN:- 0002-9297
- Adolescent
- Alleles
- Base Sequence
- Child
- Child, Preschool
- DNA Mutational Analysis
- Ectodermal Dysplasia -- complications
- Exons -- genetics
- Female
- Genes, Recessive -- genetics
- Genetic Linkage -- genetics
- Humans
- I-kappa B Kinase
- Immunologic Deficiency Syndromes -- complications
- Incontinentia Pigmenti -- genetics
- Infant
- Infant, Newborn
- Male
- Mutation -- genetics
- NF-kappa B -- physiology
- Pedigree
- Protein Serine-Threonine Kinases -- chemistry
- Protein Structure, Tertiary
- X Chromosome -- genetics
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
There are no comments on this title.
Log in to your account to post a comment.