|
Pulkkinen, L; Cserhalmi-Friedman, P B; Tang, M et al. (1998) Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa. Lab Invest 78:1067-76
|
|
Christiano, A M; Pulkkinen, L; McGrath, J A et al. (1997) Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenat Diagn 17:343-54
|
|
Lam, H; Dragan, L; Tsou, H C et al. (1997) Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene. Hum Genet 99:126-9
|
|
Christiano, A M; Uitto, J (1996) Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp Dermatol 5:1-11
|
|
Kivirikko, S; McGrath, J A; Pulkkinen, L et al. (1996) Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 5:231-7
|
|
Kivirikko, S; McGrath, J A; Baudoin, C et al. (1995) A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Hum Mol Genet 4:959-62
|
