Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa-Reference-Cited by-同舟云学术

Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

Published:1995-09 Issue:1 Volume:11 Page:83-86
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

McGrath John A.,Gatalica Biljana,Christiano Angela M.,si Kehua,Owaribe Katsushi,McMillan James R.,Eady Robin A.J.,Uitto Jouni

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0995-83.pdf

Reference29 articles.

1. Fine, J.-D. et al. Revised clinical and laboratory criteria for subtypes of epidermolysis bullosa. A consensus report by the Subcomittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J. Am. Acad. Dermatol. 24, 119–135 (1991).

2. Tidman, M.J. & Eady, R.A.J. Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J. invest. Dermatol. 86, 51–56 (1986).

3. Pulkkinen, L. et al. Mutations in the γ2 chain gene (LAMC2) of kalinin/ laminin-5 in the junctional forms of epidermolysis bullosa. Nature Genet. 6, 293–298 (1994).

4. Aberdam, D. et al. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (laminin-5). Nature Genet. 6, 299–304 (1994).

5. Pulkkinen, L. et al. A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24, 357–360 (1994).

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