Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.

doi:10.1111/1523-1747.ep12346246

Back to search

Article

Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.

The Journal of investigative dermatology - 1 Apr 1996

Christiano A M, Pulkkinen L, Eady R A, Uitto J

Abstract excerpt

Mutations in the genes encoding laminin 5 (LAMA3, LAMB3, and LAMC2) have been delineated in the autosomal recessive blistering skin disorder, junctional epidermolysis bullosa, particularly in the lethal (Herlitz) variant. In this study, we searched for mutations in these genes in two patients wit...

Topics

Aged
Alleles
Base Sequence
Epidermolysis Bullosa, Junctional
Female
Heterozygote
Humans
Infant
Laminin
Molecular Sequence Data
Mutation

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.