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The Journal of Investigative Dermatology|April 1, 1995
Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrenceJ Vailly, L Pulkkinen, C Miquel, et al.
Prenatal Diagnosis|July 1, 1995
Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one familyJ A McGrath, J R McMillan, M G Dunnill, et al.
Molecular Medicine (Cambridge, Mass.)|February 1, 1997
Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis BullosaL Pulkkinen, J McGrath, T Airenne, et al.
Dermatologic Clinics|July 1, 1986
Connective tissue biochemistry of the aging dermis. Age-related alterations in collagen and elastinJ Uitto
Experimental Dermatology|May 8, 1999
Molecular diagnostics of epidermolysis bullosa: novel pathomechanisms and surprising geneticsJ Uitto
The Journal of Investigative Dermatology|January 1, 1979
Biochemistry of the elastic fibers in normal connective tissues and its alterations in diseasesJ Uitto
The British Journal of Dermatology|May 1, 1997
A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral alleleG H Ashton, J E Mellerio, M G Dunnill, et al.
The Journal of Investigative Dermatology|January 29, 2000
Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin geneM Kunz, F Rouan, L Pulkkinen, et al.
Pediatric Research|May 1, 2001
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlationsA Nakano, L Pulkkinen, D Murrell, et al.
Clinics in Geriatric Medicine|February 1, 1989
Connective tissue biochemistry of the aging dermis. Age-associated alterations in collagen and elastinJ Uitto
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