Article
Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.
The British journal of dermatology - 1 Apr 2001
Cserhalmi-Friedman P B, Milstone L M, Christiano A M
Abstract excerpt
BACKGROUND: Autosomal recessive lamellar ichthyosis (ARLI) is a clinically and genetically heterogeneous disorder. In many cases, mutations in the transglutaminase 1 gene (TGM1) have been identified, however, other clinically indistinguishable cases have been linked to chromosomes 2, 3 and 19. Pr...
Topics
- Adult
- DNA Mutational Analysis
- Female
- Humans
- Ichthyosis, Lamellar
- Male
- Microscopy, Fluorescence
- Mutation
- Pedigree
- Transglutaminases