Article
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.
Human genetics - 1 May 2000
Shevchenko Y O, Compton J G, Toro J R, DiGiovanna J J, Bale S J
Abstract excerpt
Lamellar ichthyosis (LI, OMIM no. 242300) is a severe autosomal recessive genodermatosis with an estimated prevalence of 1:200,000. LI represents one end of the spectrum of congenital recessive ichthyosis (CRI). Mutations in the gene for transglutaminase-1 (TGM1) are responsible for many cases of LI and occur throughout the coding sequence of the gene. Our analyses of patients with CRI revealed a common TGM1...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- Child, Preschool
- DNA Mutational Analysis
- DNA Primers
- Female
- Founder Effect
- Genes, Recessive
- Germany
- Haplotypes
- Humans
- Ichthyosis
- Male
- Middle Aged
- Mutation
- Norway