Junctional Epidermolysis Bullosa, Generalized Intermediate Type
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/978-3-662-45698-9_37
Reference73 articles.
1. Aberdam D, Galliano MF, Vailly J, et al. Herlitz’s junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Nat Genet. 1994;6:299–304.
2. Kivirikko S, McGrath JA, Baudoin C, et al. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Hum Mol Genet. 1995;4:959–62.
3. Pulkkinen L, Christiano AM, Gerecke D, et al. A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics. 1994;24:357–60.
4. Yuen WY, Lemmink HH, van Dijk-Bos KK, et al. Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence, and population carrier frequency in the Netherlands. Br J Dermatol. 2011;165:1314–22.
5. Jonkman MF, De Jong MC, Heeres K, et al. Generalized atrophic benign epidermolysis bullosa: either 180-kD bullous pemphigoid antigen (BP180) or laminin-5 is deficient. Arch Dermatol. 1996;132:145–50.
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