Article
Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa.
The Journal of investigative dermatology - 1 May 1998
Takizawa Y, Pulkkinen L, Shimizu H, Lin L, Hagiwara S, Nishikawa T, Uitto J
Abstract excerpt
Herlitz junctional epidermolysis bullosa (OMIM#226700) is a lethal, autosomal recessive blistering disorder caused by mutations in one of the three genes LAMA3, LAMB3, or LAMC2, encoding the constitutive polypeptide subunits of laminin 5. In this study, we describe a patient homozygous for a nove...
Topics
- Cell Adhesion Molecules
- Chromosome Aberrations
- Chromosomes, Human, Pair 1
- Epidermolysis Bullosa, Junctional
- Fatal Outcome
- Female
- Genotype
- Homozygote
- Humans
- Infant, Newborn
- Maternal-Fetal Exchange
- Mutation
- Pregnancy
- Kalinin