Associated Papers
Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa.
De Rosa L et al.
Frontiers in Genetics, 2021
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
Nakano A et al.
Human Genetics, 2002
Laminins and human disease.
McGowan KA et al.
Microscopy Research and Technique, 2000
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.
Mellerio JE et al.
The British Journal of Dermatology, 1998
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.
Pulkkinen L et al.
The Journal of Investigative Dermatology, 1997
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.
Kivirikko S et al.
Human Molecular Genetics, 1996
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