Laminin 332 in junctional epidermolysis bullosa.
Freiburg, Germany. In Cell Adh Migr, 2013
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.
Herlitz junctional epidermolysis bullosa.
Salzburg, Austria. In Dermatol Clin, 2010
Characterized by generalized, extensive mucocutaneous blistering at birth and early lethality, this devastating condition is most often caused by homozygous null mutations in the genes LAMA3, LAMB3, or LAMC2, each encoding for 1 of the 3 chains of the heterotrimer laminin-332.
Junctional Epidermolysis Bullosa
Seattle, United States. In Unknown Journal, 2008
The four genes in which mutations are known to cause JEB are LAMB3 (70% of all JEB), COL17A1 (12%), LAMC2 (9%), and LAMA3 (9%).
Mutation analysis and molecular genetics of epidermolysis bullosa.
Philadelphia, United States. In Matrix Biol, 1999
These include mutations in the type VII collagen gene (COL7A1) in the dystrophic (severely scarring) forms of EB; mutations in the laminin 5 genes (LAMA3, LAMB3 and LAMC2) in a lethal (Herlitz) variant of junctional EB; aberrations in the type XVII collagen gene (COL17A1) in non-lethal forms of junctional EB; mutations in the alpha6 and beta4 integrin genes in a distinct hemidesmosomal variant of EB with congenital pyloric atresia; and mutations in the plectin gene (PLEC1) in a form of EB associated with late-onset muscular dystrophy.