Редактирование: LAMA3 (раздел)

==Publications==

{{medline-entry
|title=Laminin 332 in junctional epidermolysis bullosa.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/23076207
|abstract=Laminin 332 is an essential component of the dermal-epidermal junction, a highly specialized basement membrane zone that attaches the epidermis to the dermis and thereby provides skin integrity and resistance to external mechanical forces. Mutations in the [[LAMA3]], [[LAMB3]] and [[LAMC2]] genes that encode the three constituent polypeptide chains, α3, β3 and γ2, abrogate or perturb the functions of laminin 332. The phenotypic consequences are diminished dermal-epidermal adhesion and, as clinical symptoms, skin fragility and mechanically induced blistering. The disorder is designated as junctional epidermolysis bullosa (JEB). This article delineates the signs and symptoms of the different forms of JEB, the mutational spectrum, genotype-phenotype correlations as well as perspectives for future molecular therapies.
|mesh-terms=* Aging
* Animals
* Autoantigens
* Basement Membrane
* Cell Adhesion
* Cell Adhesion Molecules
* Codon, Nonsense
* Epidermolysis Bullosa, Junctional
* Frameshift Mutation
* Genetic Association Studies
* Humans
* Laminin
* Mice
* Non-Fibrillar Collagens
* RNA Splice Sites
* Skin

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3544777
}}